nsv3915749
- 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:217,010
- Description:GRCh38/hg38 9p21.3(chr9:21879075-22096084)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: 678 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 684 SVs from 68 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv3915749 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 21,879,075 | 22,096,084 |
nsv3915749 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 21,879,074 | 22,096,083 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15130129 | copy number loss | Multiple | Multiple | Vascular endothelial growth factor (VEGF) inhibitor response | drug response | ClinVar | RCV000626437.1, VCV000523164.1 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv15130129 | Submitted genomic | NC_000009.12:g.218 79075_22096084del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 21,879,075 | 22,096,084 |
nssv15130129 | Submitted genomic | NC_000009.11:g.218 79074_22096083del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 21,879,074 | 22,096,083 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15130129 | GRCh37: NC_000009.11:g.21879074_22096083del, GRCh38: NC_000009.12:g.21879075_22096084del | copy number loss | somatic | Vascular endothelial growth factor (VEGF) inhibitor response | drug response | ClinVar | RCV000626437.1, VCV000523164.1 | 0 |