nsv6137723
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:65
- Description:Single allele AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 392 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 392 SVs from 41 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv6137723 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 679,959 | 680,023 |
nsv6137723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 729,959 | 730,023 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17683560 | deletion | Multiple | Multiple | not provided | Benign | ClinVar | RCV001693825.1, VCV001281841.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv17683560 | Submitted genomic | NC_000016.10:g.679 959_680023del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 679,959 | 680,023 |
nssv17683560 | Submitted genomic | NC_000016.9:g.7299 59_730023del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 729,959 | 730,023 |
No validation data were submitted for this variant
Clinical Assertions
Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17683560 | GRCh37: NC_000016.9:g.729959_730023del, GRCh38: NC_000016.10:g.679959_680023del | deletion | germline | not provided | Benign | ClinVar | RCV001693825.1, VCV001281841.1 |