nsv3894450
- 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:20,246,862
- Description:GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)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: 49904 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 49908 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3894450 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 83,797,676 | 104,044,537 |
| nsv3894450 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 85,557,432 | 105,804,295 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161400 | copy number loss | Multiple | Multiple | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000431909.1, VCV000377387.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15161400 | Remapped | Perfect | NC_000010.11:g.837 97676_104044537del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 83,797,676 | 104,044,537 |
| nssv15161400 | Submitted genomic | NC_000010.10:g.855 57432_105804295del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 85,557,432 | 105,804,295 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161400 | GRCh37: NC_000010.10:g.85557432_105804295del | copy number loss | somatic | Poly (ADP-Ribose) polymerase inhibitor response | drug response | ClinVar | RCV000431909.1, VCV000377387.1 | 1 |