nsv3924627
- 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:767,206
- Description:GRCh38/hg38 9p21.3(chr9:21939409-22706614)x0 AND Vascular endothelial growth factor (VEGF) inhibitor response
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2284 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 2290 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3924627 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 21,939,409 | 22,706,614 |
| nsv3924627 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 21,939,408 | 22,706,613 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131576 | copy number loss | Multiple | Multiple | Vascular endothelial growth factor (VEGF) inhibitor response | drug response | ClinVar | RCV000626440.1, VCV000523167.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15131576 | Submitted genomic | NC_000009.12:g.219 39409_22706614del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 21,939,409 | 22,706,614 |
| nssv15131576 | Submitted genomic | NC_000009.11:g.219 39408_22706613del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 21,939,408 | 22,706,613 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15131576 | GRCh37: NC_000009.11:g.21939408_22706613del, GRCh38: NC_000009.12:g.21939409_22706614del | copy number loss | somatic | Vascular endothelial growth factor (VEGF) inhibitor response | drug response | ClinVar | RCV000626440.1, VCV000523167.1 | 0 |