nsv3903209
- 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:2,370,137
- Description:GRCh37/hg19 9q34.11(chr9:130390139-132760275) 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: 9091 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 9093 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3903209 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 127,627,860 | 129,997,996 |
| nsv3903209 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 130,390,139 | 132,760,275 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969384 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052848.3, VCV001527562.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969384 | Remapped | Perfect | NC_000009.12:g.(?_ 127627860)_(129997 996_?)del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 127,627,860 | 129,997,996 |
| nssv17969384 | Submitted genomic | NC_000009.11:g.(?_ 130390139)_(132760 275_?)del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 130,390,139 | 132,760,275 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969384 | GRCh37: NC_000009.11:g.(?_130390139)_(132760275_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052848.3, VCV001527562.3 |