nsv2781999
- Organism: Homo sapiens
- Study:nstd133 (Redin et al. 2016)
- Variant Type:complex chromosomal rearrangement
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:41
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1
- Publication(s):Redin et al. 2016
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 199 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 199 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 199 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 199 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 174 SVs from 24 studies. See in: genome view   Â
Overlapping variant regions from other studies: 174 SVs from 24 studies. See in: genome view   Â
Overlapping variant regions from other studies: 174 SVs from 24 studies. See in: genome view   Â
Overlapping variant regions from other studies: 174 SVs from 24 studies. See in: genome view   Â
Overlapping variant regions from other studies: 169 SVs from 26 studies. See in: genome view   Â
Overlapping variant regions from other studies: 169 SVs from 26 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 144 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 144 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 156 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 156 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 162 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 162 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 160 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 160 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 161 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 161 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 168 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 167 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 163 SVs from 20 studies. See in: genome view   Â
Overlapping variant regions from other studies: 163 SVs from 20 studies. See in: genome view   Â
Overlapping variant regions from other studies: 158 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 158 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 148 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 148 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 148 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 148 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 149 SVs from 22 studies. See in: genome view   Â
Overlapping variant regions from other studies: 149 SVs from 22 studies. See in: genome view   Â
Overlapping variant regions from other studies: 140 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 140 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 142 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 142 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 154 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 154 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 186 SVs from 23 studies. See in: genome view   Â
Overlapping variant regions from other studies: 186 SVs from 23 studies. See in: genome view   Â
Overlapping variant regions from other studies: 138 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 138 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 23 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 23 studies. See in: genome view   Â
Overlapping variant regions from other studies: 125 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 125 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 133 SVs from 21 studies. See in: genome view   Â
Overlapping variant regions from other studies: 133 SVs from 21 studies. See in: genome view   Â
Overlapping variant regions from other studies: 123 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 123 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 335 SVs from 30 studies. See in: genome view   Â
Overlapping variant regions from other studies: 335 SVs from 30 studies. See in: genome view   Â
Overlapping variant regions from other studies: 310 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 310 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 336 SVs from 39 studies. See in: genome view   Â
Overlapping variant regions from other studies: 336 SVs from 39 studies. See in: genome view   Â
Overlapping variant regions from other studies: 291 SVs from 29 studies. See in: genome view   Â
Overlapping variant regions from other studies: 291 SVs from 29 studies. See in: genome view   Â
Overlapping variant regions from other studies: 232 SVs from 28 studies. See in: genome view   Â
Overlapping variant regions from other studies: 232 SVs from 28 studies. See in: genome view   Â
Overlapping variant regions from other studies: 265 SVs from 32 studies. See in: genome view   Â
Overlapping variant regions from other studies: 265 SVs from 32 studies. See in: genome view   Â
Overlapping variant regions from other studies: 262 SVs from 31 studies. See in: genome view   Â
Overlapping variant regions from other studies: 262 SVs from 31 studies. See in: genome view   Â
Overlapping variant regions from other studies: 351 SVs from 41 studies. See in: genome view   Â
Overlapping variant regions from other studies: 351 SVs from 41 studies. See in: genome view   Â
Overlapping variant regions from other studies: 285 SVs from 38 studies. See in: genome view   Â
Overlapping variant regions from other studies: 285 SVs from 38 studies. See in: genome view   Â
Overlapping variant regions from other studies: 184 SVs from 20 studies. See in: genome view   Â
Overlapping variant regions from other studies: 184 SVs from 20 studies. See in: genome view   Â
Overlapping variant regions from other studies: 190 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 190 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 255 SVs from 34 studies. See in: genome view   Â
Overlapping variant regions from other studies: 255 SVs from 34 studies. See in: genome view   Â
Overlapping variant regions from other studies: 191 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 191 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 195 SVs from 34 studies. See in: genome view   Â
Overlapping variant regions from other studies: 195 SVs from 34 studies. See in: genome view   Â
Overlapping variant regions from other studies: 199 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 199 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 199 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 199 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 174 SVs from 24 studies. See in: genome view   Â
Overlapping variant regions from other studies: 174 SVs from 24 studies. See in: genome view   Â
Overlapping variant regions from other studies: 174 SVs from 24 studies. See in: genome view   Â
Overlapping variant regions from other studies: 174 SVs from 24 studies. See in: genome view   Â
Overlapping variant regions from other studies: 169 SVs from 26 studies. See in: genome view   Â
Overlapping variant regions from other studies: 169 SVs from 26 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 144 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 144 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 156 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 156 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 162 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 162 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 160 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 160 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 161 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 161 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 168 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 167 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 163 SVs from 20 studies. See in: genome view   Â
Overlapping variant regions from other studies: 163 SVs from 20 studies. See in: genome view   Â
Overlapping variant regions from other studies: 158 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 158 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 148 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 148 SVs from 15 studies. See in: genome view   Â
Overlapping variant regions from other studies: 148 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 148 SVs from 17 studies. See in: genome view   Â
Overlapping variant regions from other studies: 149 SVs from 22 studies. See in: genome view   Â
Overlapping variant regions from other studies: 149 SVs from 22 studies. See in: genome view   Â
Overlapping variant regions from other studies: 140 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 140 SVs from 16 studies. See in: genome view   Â
Overlapping variant regions from other studies: 142 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 142 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 154 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 154 SVs from 19 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 186 SVs from 23 studies. See in: genome view   Â
Overlapping variant regions from other studies: 186 SVs from 23 studies. See in: genome view   Â
Overlapping variant regions from other studies: 138 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 138 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 23 studies. See in: genome view   Â
Overlapping variant regions from other studies: 145 SVs from 23 studies. See in: genome view   Â
Overlapping variant regions from other studies: 125 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 125 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 133 SVs from 21 studies. See in: genome view   Â
Overlapping variant regions from other studies: 133 SVs from 21 studies. See in: genome view   Â
Overlapping variant regions from other studies: 123 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 123 SVs from 18 studies. See in: genome view   Â
Overlapping variant regions from other studies: 340 SVs from 30 studies. See in: genome view   Â
Overlapping variant regions from other studies: 340 SVs from 30 studies. See in: genome view   Â
Overlapping variant regions from other studies: 316 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 316 SVs from 25 studies. See in: genome view   Â
Overlapping variant regions from other studies: 342 SVs from 39 studies. See in: genome view   Â
Overlapping variant regions from other studies: 342 SVs from 39 studies. See in: genome view   Â
Overlapping variant regions from other studies: 297 SVs from 29 studies. See in: genome view   Â
Overlapping variant regions from other studies: 297 SVs from 29 studies. See in: genome view   Â
Overlapping variant regions from other studies: 238 SVs from 29 studies. See in: genome view   Â
Overlapping variant regions from other studies: 238 SVs from 29 studies. See in: genome view   Â
Overlapping variant regions from other studies: 271 SVs from 33 studies. See in: genome view   Â
Overlapping variant regions from other studies: 271 SVs from 33 studies. See in: genome view   Â
Overlapping variant regions from other studies: 268 SVs from 32 studies. See in: genome view   Â
Overlapping variant regions from other studies: 268 SVs from 32 studies. See in: genome view   Â
Overlapping variant regions from other studies: 357 SVs from 42 studies. See in: genome view   Â
Overlapping variant regions from other studies: 357 SVs from 42 studies. See in: genome view   Â
Overlapping variant regions from other studies: 291 SVs from 39 studies. See in: genome view   Â
Overlapping variant regions from other studies: 291 SVs from 39 studies. See in: genome view   Â
Overlapping variant regions from other studies: 190 SVs from 21 studies. See in: genome view   Â
Overlapping variant regions from other studies: 190 SVs from 21 studies. See in: genome view   Â
Overlapping variant regions from other studies: 196 SVs from 20 studies. See in: genome view   Â
Overlapping variant regions from other studies: 196 SVs from 20 studies. See in: genome view   Â
Overlapping variant regions from other studies: 262 SVs from 34 studies. See in: genome view   Â
Overlapping variant regions from other studies: 262 SVs from 34 studies. See in: genome view   Â
Overlapping variant regions from other studies: 198 SVs from 26 studies. See in: genome view   Â
Overlapping variant regions from other studies: 198 SVs from 26 studies. See in: genome view   Â
Overlapping variant regions from other studies: 206 SVs from 35 studies. See in: genome view   Â
Overlapping variant regions from other studies: 206 SVs from 35 studies. See in: genome view   Â
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,176,078 | 166,176,078 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,176,080 | 166,176,080 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,176,193 | 166,176,193 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,176,193 | 166,176,193 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,537,236 | 166,537,236 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,537,236 | 166,537,236 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,548,472 | 166,548,472 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,548,472 | 166,548,472 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,985,987 | 166,985,987 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,985,989 | 166,985,989 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 173,475,897 | 173,475,897 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 173,475,911 | 173,475,911 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 173,580,808 | 173,580,808 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 173,580,810 | 173,580,810 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 173,718,220 | 173,718,220 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 173,718,220 | 173,718,220 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,008,360 | 174,008,360 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,008,443 | 174,008,443 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,029,421 | 174,029,421 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,029,426 | 174,029,426 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,274,850 | 174,274,850 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,274,851 | 174,274,851 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,333,007 | 174,333,007 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,333,029 | 174,333,029 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,614,341 | 174,614,341 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 174,614,342 | 174,614,342 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 175,779,221 | 175,779,221 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 175,779,233 | 175,779,233 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 175,886,716 | 175,886,716 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 175,886,717 | 175,886,717 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 175,992,546 | 175,992,546 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 175,992,547 | 175,992,547 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 179,816,633 | 179,816,633 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 179,816,635 | 179,816,635 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 179,872,489 | 179,872,489 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 179,872,495 | 179,872,495 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 180,231,488 | 180,231,488 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 180,231,497 | 180,231,497 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 180,400,942 | 180,400,942 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 180,400,943 | 180,400,943 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 180,549,792 | 180,549,792 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 180,549,793 | 180,549,793 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 149,309,863 | 149,309,863 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 149,309,864 | 149,309,864 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 56,237,237 | 56,237,237 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 56,237,242 | 56,237,242 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 57,637,624 | 57,637,624 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 57,637,624 | 57,637,624 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 57,994,231 | 57,994,231 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 57,994,238 | 57,994,238 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 58,623,043 | 58,623,043 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 58,623,044 | 58,623,044 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 58,854,960 | 58,854,960 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 58,854,963 | 58,854,963 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 13,643,428 | 13,643,428 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 13,643,428 | 13,643,428 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 14,497,719 | 14,497,719 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 14,497,728 | 14,497,728 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 15,353,190 | 15,353,190 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 15,353,190 | 15,353,190 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 16,355,040 | 16,355,040 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 16,355,041 | 16,355,041 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 24,354,927 | 24,354,927 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 24,354,929 | 24,354,929 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 25,553,961 | 25,553,961 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 25,553,962 | 25,553,962 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 30,076,489 | 30,076,489 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 30,076,491 | 30,076,491 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 30,570,815 | 30,570,815 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 30,571,115 | 30,571,115 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 30,707,343 | 30,707,343 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 30,707,344 | 30,707,344 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 32,391,694 | 32,391,694 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 32,391,694 | 32,391,694 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 32,809,748 | 32,809,748 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 32,809,749 | 32,809,749 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 33,924,069 | 33,924,069 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 33,924,072 | 33,924,072 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 37,701,785 | 37,701,785 | + |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 37,701,785 | 37,701,785 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 38,487,442 | 38,487,442 | - |
| nsv2781999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 38,487,488 | 38,487,488 | + |
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,032,588 | 167,032,588 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,032,590 | 167,032,590 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,032,703 | 167,032,703 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,032,703 | 167,032,703 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,393,746 | 167,393,746 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,393,746 | 167,393,746 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,404,982 | 167,404,982 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,404,982 | 167,404,982 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,842,497 | 167,842,497 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,842,499 | 167,842,499 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,340,625 | 174,340,625 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,340,639 | 174,340,639 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,445,536 | 174,445,536 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,445,538 | 174,445,538 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,582,948 | 174,582,948 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,582,948 | 174,582,948 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,873,088 | 174,873,088 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,873,171 | 174,873,171 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,894,149 | 174,894,149 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 174,894,154 | 174,894,154 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,139,578 | 175,139,578 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,139,579 | 175,139,579 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,197,735 | 175,197,735 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,197,757 | 175,197,757 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,479,069 | 175,479,069 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 175,479,070 | 175,479,070 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 176,643,949 | 176,643,949 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 176,643,961 | 176,643,961 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 176,751,444 | 176,751,444 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 176,751,445 | 176,751,445 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 176,857,274 | 176,857,274 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 176,857,275 | 176,857,275 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 180,681,360 | 180,681,360 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 180,681,362 | 180,681,362 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 180,737,216 | 180,737,216 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 180,737,222 | 180,737,222 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 181,096,215 | 181,096,215 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 181,096,224 | 181,096,224 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 181,265,669 | 181,265,669 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 181,265,670 | 181,265,670 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 181,414,519 | 181,414,519 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 181,414,520 | 181,414,520 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 149,006,954 | 149,006,954 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 149,006,955 | 149,006,955 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 57,149,796 | 57,149,796 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 57,149,801 | 57,149,801 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 58,550,183 | 58,550,183 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 58,550,183 | 58,550,183 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 58,906,790 | 58,906,790 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 58,906,797 | 58,906,797 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 59,535,602 | 59,535,602 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 59,535,603 | 59,535,603 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 59,767,519 | 59,767,519 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 59,767,522 | 59,767,522 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 13,643,427 | 13,643,427 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 13,643,427 | 13,643,427 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 14,497,717 | 14,497,717 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 14,497,726 | 14,497,726 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 15,353,188 | 15,353,188 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 15,353,188 | 15,353,188 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 16,355,038 | 16,355,038 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 16,355,039 | 16,355,039 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 24,354,925 | 24,354,925 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 24,354,927 | 24,354,927 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 25,553,959 | 25,553,959 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 25,553,960 | 25,553,960 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 30,076,487 | 30,076,487 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 30,076,489 | 30,076,489 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 30,570,813 | 30,570,813 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 30,571,113 | 30,571,113 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 30,707,341 | 30,707,341 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 30,707,342 | 30,707,342 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 32,391,692 | 32,391,692 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 32,391,692 | 32,391,692 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 32,809,746 | 32,809,746 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 32,809,747 | 32,809,747 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 33,924,067 | 33,924,067 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 33,924,070 | 33,924,070 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 37,701,782 | 37,701,782 | + | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 37,701,782 | 37,701,782 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 38,487,439 | 38,487,439 | - | ||
| nsv2781999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 38,487,485 | 38,487,485 | + |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | ClinVar ID | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv13660621 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660585 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660620 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660625 | copy number loss | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660611 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660594 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660612 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660586 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660593 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660587 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660588 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660589 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660604 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660595 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660605 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660596 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660592 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660610 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660606 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660614 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660607 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660615 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660608 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660591 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660590 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660597 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660613 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660609 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660599 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660600 | interchromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660616 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660617 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660619 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660618 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660603 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660601 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660623 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660598 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660622 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660602 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
| nssv13660624 | intrachromosomal translocation | UTR22 | Sequencing | Split read and paired-end mapping | SCV000320992 | 41 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv13660621 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,176,078 | 166,176,078 | - | |
| nssv13660585 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,176,080 | 166,176,080 | + | |
| nssv13660620 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,176,193 | 166,176,193 | - | |
| nssv13660625 | Remapped | Perfect | NC_000002.12:g.166 176193delNC_000002 .12:g.166537236del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,176,193 | 166,176,193 | |
| nssv13660611 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,537,236 | 166,537,236 | + | |
| nssv13660625 | Remapped | Perfect | NC_000002.12:g.166 176193delNC_000002 .12:g.166537236del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,537,236 | 166,537,236 | |
| nssv13660594 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,548,472 | 166,548,472 | - | |
| nssv13660612 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,548,472 | 166,548,472 | + | |
| nssv13660586 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,985,987 | 166,985,987 | + | |
| nssv13660593 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,985,989 | 166,985,989 | - | |
| nssv13660587 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 173,475,897 | 173,475,897 | + | |
| nssv13660588 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 173,475,911 | 173,475,911 | + | |
| nssv13660589 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 173,580,808 | 173,580,808 | + | |
| nssv13660604 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 173,580,810 | 173,580,810 | + | |
| nssv13660595 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 173,718,220 | 173,718,220 | + | |
| nssv13660605 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 173,718,220 | 173,718,220 | + | |
| nssv13660596 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,008,360 | 174,008,360 | + | |
| nssv13660594 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,008,443 | 174,008,443 | + | |
| nssv13660595 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,029,421 | 174,029,421 | + | |
| nssv13660592 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,029,426 | 174,029,426 | + | |
| nssv13660593 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,274,850 | 174,274,850 | + | |
| nssv13660611 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,274,851 | 174,274,851 | - | |
| nssv13660610 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,333,007 | 174,333,007 | - | |
| nssv13660586 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,333,029 | 174,333,029 | - | |
| nssv13660605 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,614,341 | 174,614,341 | + | |
| nssv13660585 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 174,614,342 | 174,614,342 | - | |
| nssv13660606 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 175,779,221 | 175,779,221 | + | |
| nssv13660614 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 175,779,233 | 175,779,233 | + | |
| nssv13660607 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 175,886,716 | 175,886,716 | - | |
| nssv13660615 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 175,886,717 | 175,886,717 | + | |
| nssv13660606 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 175,992,546 | 175,992,546 | - | |
| nssv13660607 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 175,992,547 | 175,992,547 | + | |
| nssv13660608 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,816,633 | 179,816,633 | + | |
| nssv13660591 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,816,635 | 179,816,635 | + | |
| nssv13660592 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,872,489 | 179,872,489 | + | |
| nssv13660591 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 179,872,495 | 179,872,495 | - | |
| nssv13660590 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 180,231,488 | 180,231,488 | - | |
| nssv13660597 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 180,231,497 | 180,231,497 | - | |
| nssv13660613 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 180,400,942 | 180,400,942 | - | |
| nssv13660596 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 180,400,943 | 180,400,943 | - | |
| nssv13660608 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 180,549,792 | 180,549,792 | + | |
| nssv13660612 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 180,549,793 | 180,549,793 | - | |
| nssv13660613 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 149,309,863 | 149,309,863 | + | |
| nssv13660609 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 149,309,864 | 149,309,864 | + | |
| nssv13660590 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 56,237,237 | 56,237,237 | - | |
| nssv13660614 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 56,237,242 | 56,237,242 | + | |
| nssv13660588 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,637,624 | 57,637,624 | - | |
| nssv13660589 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,637,624 | 57,637,624 | - | |
| nssv13660587 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,994,231 | 57,994,231 | - | |
| nssv13660599 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 57,994,238 | 57,994,238 | + | |
| nssv13660600 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 58,623,043 | 58,623,043 | + | |
| nssv13660616 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 58,623,044 | 58,623,044 | - | |
| nssv13660616 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 58,854,960 | 58,854,960 | + | |
| nssv13660615 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 58,854,963 | 58,854,963 | - | |
| nssv13660617 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 13,643,428 | 13,643,428 | + | |
| nssv13660619 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 13,643,428 | 13,643,428 | - | |
| nssv13660618 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 14,497,719 | 14,497,719 | - | |
| nssv13660610 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 14,497,728 | 14,497,728 | - | |
| nssv13660604 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 15,353,190 | 15,353,190 | - | |
| nssv13660609 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 15,353,190 | 15,353,190 | - | |
| nssv13660603 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 16,355,040 | 16,355,040 | - | |
| nssv13660601 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 16,355,041 | 16,355,041 | - | |
| nssv13660623 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 24,354,927 | 24,354,927 | - | |
| nssv13660600 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 24,354,929 | 24,354,929 | - | |
| nssv13660598 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 25,553,961 | 25,553,961 | + | |
| nssv13660622 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 25,553,962 | 25,553,962 | - | |
| nssv13660621 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,076,489 | 30,076,489 | + | |
| nssv13660599 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,076,491 | 30,076,491 | + | |
| nssv13660622 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,570,815 | 30,570,815 | + | |
| nssv13660602 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,571,115 | 30,571,115 | - | |
| nssv13660598 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,707,343 | 30,707,343 | - | |
| nssv13660601 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 30,707,344 | 30,707,344 | - | |
| nssv13660597 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 32,391,694 | 32,391,694 | - | |
| nssv13660619 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 32,391,694 | 32,391,694 | + | |
| nssv13660617 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 32,809,748 | 32,809,748 | + | |
| nssv13660620 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 32,809,749 | 32,809,749 | + | |
| nssv13660618 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 33,924,069 | 33,924,069 | + | |
| nssv13660623 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 33,924,072 | 33,924,072 | + | |
| nssv13660603 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,701,785 | 37,701,785 | - | |
| nssv13660624 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 37,701,785 | 37,701,785 | + | |
| nssv13660602 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 38,487,442 | 38,487,442 | - | |
| nssv13660624 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 38,487,488 | 38,487,488 | + | |
| nssv13660621 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,032,588 | 167,032,588 | - | |||
| nssv13660585 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,032,590 | 167,032,590 | + | |||
| nssv13660620 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,032,703 | 167,032,703 | - | |||
| nssv13660625 | Submitted genomic | [NC_000002.11:g.16 7032703del];[NC_00 0002.11:g.16739374 6del] | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,032,703 | 167,032,703 | |||
| nssv13660611 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,393,746 | 167,393,746 | + | |||
| nssv13660625 | Submitted genomic | [NC_000002.11:g.16 7032703del];[NC_00 0002.11:g.16739374 6del] | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,393,746 | 167,393,746 | |||
| nssv13660594 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,404,982 | 167,404,982 | - | |||
| nssv13660612 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,404,982 | 167,404,982 | + | |||
| nssv13660586 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,842,497 | 167,842,497 | + | |||
| nssv13660593 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,842,499 | 167,842,499 | - | |||
| nssv13660587 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,340,625 | 174,340,625 | + | |||
| nssv13660588 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,340,639 | 174,340,639 | + | |||
| nssv13660589 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,445,536 | 174,445,536 | + | |||
| nssv13660604 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,445,538 | 174,445,538 | + | |||
| nssv13660595 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,582,948 | 174,582,948 | + | |||
| nssv13660605 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,582,948 | 174,582,948 | + | |||
| nssv13660596 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,873,088 | 174,873,088 | + | |||
| nssv13660594 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 174,873,171 | 174,873,171 | + |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Sample ID | HGVS | Type | Clinical Interpretation | ClinVar ID | Gender | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv13660621 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660585 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660620 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660625 | UTR22 | GRCh37: [NC_000002.11:g.167032703del];[NC_000002.11:g.167393746del] | copy number loss | SCV000320992 | Female | 41 | |
| nssv13660611 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660594 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660612 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660586 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660593 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660587 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660588 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660589 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660604 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660595 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660605 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660596 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660592 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660610 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660606 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660614 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660607 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660615 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660608 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660591 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660590 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660597 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660613 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660609 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660599 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660600 | UTR22 | interchromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660616 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660617 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660619 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660618 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660603 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660601 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660623 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660598 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660622 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660602 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 | ||
| nssv13660624 | UTR22 | intrachromosomal translocation | SCV000320992 | Female | 41 |