nsv6637981
- 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:5,976,832
- Description:GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)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: 14590 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 14591 SVs from 120 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637981 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 121,256,458 | 127,233,289 |
| nsv6637981 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 124,018,736 | 129,995,568 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330280 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002474540.1, VCV001808695.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330280 | Remapped | Perfect | NC_000009.12:g.(?_ 121256458)_(127233 289_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 121,256,458 | 127,233,289 |
| nssv18330280 | Submitted genomic | NC_000009.11:g.(?_ 124018736)_(129995 568_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 124,018,736 | 129,995,568 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330280 | GRCh37: NC_000009.11:g.(?_124018736)_(129995568_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002474540.1, VCV001808695.1 | 1 |