nsv6313539
- 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:5,023,411
- Description:GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) 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: 14170 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 14171 SVs from 121 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313539 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 182,471,737 | 187,495,147 |
| nsv6313539 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 182,189,525 | 187,212,935 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969921 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053393.3, VCV001527061.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969921 | Remapped | Perfect | NC_000003.12:g.(?_ 182471737)_(187495 147_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 182,471,737 | 187,495,147 |
| nssv17969921 | Submitted genomic | NC_000003.11:g.(?_ 182189525)_(187212 935_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 182,189,525 | 187,212,935 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969921 | GRCh37: NC_000003.11:g.(?_182189525)_(187212935_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053393.3, VCV001527061.3 |