nsv6291499
- 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:4,477,520
- Description:GRCh37/hg19 14q32.31-32.33(chr14:101593860-106160500)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: 18042 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 19917 SVs from 117 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291499 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 101,127,523 | 105,605,042 |
| nsv6291499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 101,593,860 | 106,160,500 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956912 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001829204.1, VCV001341203.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956912 | Remapped | Good | NC_000014.9:g.(?_1 01127523)_(1056050 42_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 101,127,523 | 105,605,042 |
| nssv17956912 | Submitted genomic | NC_000014.8:g.(?_1 01593860)_(1061605 00_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 101,593,860 | 106,160,500 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956912 | GRCh37: NC_000014.8:g.(?_101593860)_(106160500_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001829204.1, VCV001341203.1 | 1 |