nsv6291795
- 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:4,406,043
- Description:GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1 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: 13255 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 13256 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291795 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 88,977,220 | 93,383,262 |
| nsv6291795 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 89,520,451 | 93,926,491 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957572 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001827973.1, VCV001340806.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957572 | Remapped | Perfect | NC_000015.10:g.(?_ 88977220)_(9338326 2_?)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 88,977,220 | 93,383,262 |
| nssv17957572 | Submitted genomic | NC_000015.9:g.(?_8 9520451)_(93926491 _?)del | GRCh37 (hg19) | NC_000015.9 | Chr15 | 89,520,451 | 93,926,491 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957572 | GRCh37: NC_000015.9:g.(?_89520451)_(93926491_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001827973.1, VCV001340806.1 | 1 |