nsv3911031
- 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:989,519
- Description:GRCh38/hg38 14q24.1(chr14:67823656-68813174)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: 2203 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 2203 SVs from 82 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3911031 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 67,823,656 | 68,813,174 |
| nsv3911031 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 68,290,373 | 69,279,891 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15130128 | copy number loss | Multiple | Multiple | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000626430.1, VCV000523157.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15130128 | Submitted genomic | NC_000014.9:g.6782 3656_68813174del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 67,823,656 | 68,813,174 |
| nssv15130128 | Submitted genomic | NC_000014.8:g.6829 0373_69279891del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 68,290,373 | 69,279,891 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15130128 | GRCh37: NC_000014.8:g.68290373_69279891del, GRCh38: NC_000014.9:g.67823656_68813174del | copy number loss | somatic | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000626430.1, VCV000523157.1 | 1 |