nsv4647926
- 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:72,315
- Description:nsv4173605 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: 935 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 354 SVs from 49 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4647926 | Remapped | Good | GRCh38.p12 | Primary Assembly | Second Pass | NC_000009.12 | Chr9 | 42,221,123 | 42,293,437 |
nsv4647926 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 41,216,000 | 41,290,000 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16168351 | deletion | Curated | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16168351 | Remapped | Good | NC_000009.12:g.422 21123_42293437del | GRCh38.p12 | Second Pass | NC_000009.12 | Chr9 | 42,221,123 | 42,293,437 |
nssv16168351 | Submitted genomic | NC_000009.11:g.412 16000_41290000del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 41,216,000 | 41,290,000 |
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) |
---|---|---|---|
nssv16168351 | 0.316 | 6866 | 21694 |