nsv6626051
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,196
- Publication(s):Zarrei et al. 2023
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: 216 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 216 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6626051 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nsv6626051 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nsv6626051 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18281828 | duplication | OSC2185 | SNP array | Probe signal intensity | 8 |
| nssv18282451 | duplication | OSC2177 | SNP array | Probe signal intensity | 8 |
| nssv18284133 | duplication | OSC2501 | SNP array | Probe signal intensity | 7 |
| nssv18284492 | duplication | OSC0269 | SNP array | Probe signal intensity | 7 |
| nssv18285744 | duplication | OSC2837 | SNP array | Probe signal intensity | 8 |
| nssv18287940 | duplication | OSC3210 | SNP array | Probe signal intensity | 5 |
| nssv18288327 | duplication | OSC3317 | SNP array | Probe signal intensity | 8 |
| nssv18292279 | duplication | OSC3925 | SNP array | Probe signal intensity | nssv18291692, nssv18291694, nssv18291693 |
| nssv18293568 | duplication | OSC4181 | SNP array | Probe signal intensity | nssv18292994, nssv18293567, nssv18293569 |
| nssv18294047 | duplication | OSC4272 | SNP array | Probe signal intensity | nssv18294622, nssv18294943 |
| nssv18295471 | duplication | OSC4642 | SNP array | Probe signal intensity | nssv18295472, nssv18296019, nssv18296020 |
| nssv18297484 | duplication | OSC4782 | SNP array | Probe signal intensity | 7 |
| nssv18318639 | duplication | OSC0902 | SNP array | Probe signal intensity | 9 |
| nssv18321751 | duplication | OSC1172 | SNP array | Probe signal intensity | 8 |
| nssv18323902 | duplication | OSC1574 | SNP array | Probe signal intensity | 8 |
| nssv18324546 | duplication | OSC1632 | SNP array | Probe signal intensity | 5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18281828 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18282451 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18284133 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18284492 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18285744 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18287940 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18288327 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18292279 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18293568 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18294047 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18295471 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18297484 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18318639 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18321751 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18323902 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18324546 | Remapped | Perfect | NW_011332688.1:g.( ?_110384)_(125579_ ?)dup | GRCh38.p12 | Second Pass | NW_011332688.1 | Chr1|NW_01 1332688.1 | 110,384 | 125,579 |
| nssv18281828 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18282451 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18284133 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18284492 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18285744 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18287940 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18288327 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18292279 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18293568 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18294047 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18295471 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18297484 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18318639 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18321751 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18323902 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18324546 | Remapped | Perfect | NC_000001.11:g.(?_ 17267870)_(1728306 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 17,267,870 | 17,283,065 |
| nssv18281828 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18282451 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18284133 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18284492 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18285744 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18287940 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18288327 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18292279 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18293568 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18294047 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18295471 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18297484 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18318639 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18321751 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18323902 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 | ||
| nssv18324546 | Submitted genomic | NC_000001.10:g.(?_ 17594365)_(1760956 0_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 17,594,365 | 17,609,560 |