nsv3893140
- 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:19,388,725
- Description:GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)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: 43566 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 43570 SVs from 133 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3893140 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 112,618,088 | 132,006,812 |
| nsv3893140 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 112,939,290 | 132,327,952 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15153075 | copy number loss | Multiple | Multiple | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000626432.1, VCV000523159.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15153075 | Remapped | Perfect | NC_000006.12:g.112 618088_132006812de l | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 112,618,088 | 132,006,812 |
| nssv15153075 | Submitted genomic | NC_000006.11:g.112 939290_132327952de l | GRCh37 (hg19) | NC_000006.11 | Chr6 | 112,939,290 | 132,327,952 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15153075 | GRCh37: NC_000006.11:g.112939290_132327952del | copy number loss | somatic | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000626432.1, VCV000523159.1 | 1 |