nsv6313546
- 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:137,772,589
- Description:GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) 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: 325078 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 325105 SVs from 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313546 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 353,349 | 138,125,937 |
| nsv6313546 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 353,349 | 141,020,389 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970351 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053823.3, VCV001527491.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970351 | Remapped | Good | NC_000009.12:g.(?_ 353349)_(138125937 _?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 353,349 | 138,125,937 |
| nssv17970351 | Submitted genomic | NC_000009.11:g.(?_ 353349)_(141020389 _?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 353,349 | 141,020,389 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970351 | GRCh37: NC_000009.11:g.(?_353349)_(141020389_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002053823.3, VCV001527491.3 |