nsv6291398
- 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:7,290,731
- Description:GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)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: 15711 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 15712 SVs from 119 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291398 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 117,282,896 | 124,573,626 |
| nsv6291398 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 120,045,175 | 127,335,905 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957239 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001834516.1, VCV001341250.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957239 | Remapped | Perfect | NC_000009.12:g.(?_ 117282896)_(124573 626_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 117,282,896 | 124,573,626 |
| nssv17957239 | Submitted genomic | NC_000009.11:g.(?_ 120045175)_(127335 905_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 120,045,175 | 127,335,905 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957239 | GRCh37: NC_000009.11:g.(?_120045175)_(127335905_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001834516.1, VCV001341250.1 | 1 |