nsv6121739
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,283
- Description:nsv5474048 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 419 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 83 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 452 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6121739 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000008.11 | Chr8 | 144,419,885 | 144,422,167 |
| nsv6121739 | Remapped | Perfect | GRCh38.p12 | PATCHES | First Pass | NW_018654716.1 | Chr8|NW_01 8654716.1 | 150,488 | 152,769 |
| nsv6121739 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,645,269 | 145,647,550 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17655443 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17655443 | Remapped | Perfect | NW_018654716.1:g.1 50488_152769del | GRCh38.p12 | First Pass | NW_018654716.1 | Chr8|NW_01 8654716.1 | 150,488 | 152,769 |
| nssv17655443 | Remapped | Good | NC_000008.11:g.144 419885_144422167de l | GRCh38.p12 | Second Pass | NC_000008.11 | Chr8 | 144,419,885 | 144,422,167 |
| nssv17655443 | Submitted genomic | NC_000008.10:g.145 645269_145647550de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,645,269 | 145,647,550 |
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) |
|---|---|---|---|
| nssv17655443 | 0.017 | 112 | 6402 |