nsv4897307
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,368
- Publication(s):Abel et al. 2020
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: 106 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4897307 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 150,172,770 (-1, +105) | 150,177,137 (-111, +1) | ||
| nsv4897307 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 150,144,991 (-1, +105) | 150,149,365 (-111, +1) |
| nsv4897307 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,988,183 (-1, +105) | 6,992,550 (-111, +1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16422660 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16422660 | Submitted genomic | NC_000001.11:g.(15 0172769_150172875) _(150177026_150177 138)del | GRCh38 (hg38) | NC_000001.11 | Chr1 | 150,172,770 (-1, +105) | 150,177,137 (-111, +1) | ||
| nssv16422660 | Remapped | Perfect | NW_003871055.3:g.( 6988182_6988288)_( 6992439_6992551)de l | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 6,988,183 (-1, +105) | 6,992,550 (-111, +1) |
| nssv16422660 | Remapped | Good | NC_000001.10:g.(15 0144990_150145096) _(150149254_150149 366)del | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 150,144,991 (-1, +105) | 150,149,365 (-111, +1) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16422660 | <0.001 | 1 | 29246 |