nsv6314148
- 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:133,092
- Description:GRCh37/hg19 9q34.11(chr9:130392953-130526044) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 352 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 352 SVs from 54 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314148 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,630,674 | 127,763,765 |
| nsv6314148 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,392,953 | 130,526,044 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969385 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052849.3, VCV001527563.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969385 | Remapped | Perfect | NC_000009.12:g.(?_ 127630674)_(127763 765_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,630,674 | 127,763,765 |
| nssv17969385 | Submitted genomic | NC_000009.11:g.(?_ 130392953)_(130526 044_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,392,953 | 130,526,044 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969385 | GRCh37: NC_000009.11:g.(?_130392953)_(130526044_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052849.3, VCV001527563.3 |