nsv3892946
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:15,885,455
- Description:GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1 AND Poly (ADP-Ribose) polymerase 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: 47043 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 47051 SVs from 132 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3892946 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 10,320,113 | 26,205,567 |
| nsv3892946 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 10,320,113 | 26,205,565 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15153076 | copy number loss | Multiple | Multiple | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000626433.1, VCV000523160.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15153076 | Remapped | Perfect | NC_000009.12:g.103 20113_26205567del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 10,320,113 | 26,205,567 |
| nssv15153076 | Submitted genomic | NC_000009.11:g.103 20113_26205565del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 10,320,113 | 26,205,565 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15153076 | GRCh37: NC_000009.11:g.10320113_26205565del | copy number loss | somatic | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000626433.1, VCV000523160.1 | 1 |