nsv4644493
- 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:34,701
- Description:nsv4176068 from gnomAD Structural Variants. 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: 249 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 490 SVs from 64 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4644493 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 39,824,782 | 39,859,482 |
nsv4644493 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 41,969,800 | 42,004,500 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16166216 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16166216 | Remapped | Perfect | NC_000009.12:g.398 24782_39859482del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 39,824,782 | 39,859,482 |
nssv16166216 | Submitted genomic | NC_000009.11:g.419 69800_42004500del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 41,969,800 | 42,004,500 |
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) |
---|---|---|---|
nssv16166216 | 0.37 | 8017 | 21694 |