nsv3876086
- 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:63,811,715
- Description:GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)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: 149570 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 149734 SVs from 148 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3876086 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 103,555,604 | 167,367,318 |
| nsv3876086 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 104,172,062 | 168,223,828 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15151603 | copy number loss | Multiple | Multiple | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000626436.1, VCV000523163.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15151603 | Remapped | Good | NC_000002.12:g.103 555604_167367318de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 103,555,604 | 167,367,318 |
| nssv15151603 | Submitted genomic | NC_000002.11:g.104 172062_168223828de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 104,172,062 | 168,223,828 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15151603 | GRCh37: NC_000002.11:g.104172062_168223828del | copy number loss | somatic | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000626436.1, VCV000523163.1 | 1 |