nsv6309590
- 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:2,744,148
- Description:NC_000015.9:g.(?_72978569)_(75722716_?)del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6255 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 6256 SVs from 108 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309590 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 72,686,228 | 75,430,375 |
| nsv6309590 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 72,978,569 | 75,722,716 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974119 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001863697.1, VCV001353978.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17974119 | Remapped | Perfect | NC_000015.10:g.(?_ 72686228)_(7543037 5_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 72,686,228 | 75,430,375 |
| nssv17974119 | Submitted genomic | NC_000015.9:g.(?_7 2978569)_(75722716 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 72,978,569 | 75,722,716 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974119 | GRCh37: NC_000015.9:g.(?_72978569)_(75722716_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001863697.1, VCV001353978.1 |