nsv6313839
- 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:907,685
- Description:GRCh37/hg19 2p25.2(chr2:5449964-6357647) 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: 2368 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 2368 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313839 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 5,309,831 | 6,217,515 |
| nsv6313839 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 5,449,964 | 6,357,647 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969592 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053056.3, VCV001527770.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969592 | Remapped | Perfect | NC_000002.12:g.(?_ 5309831)_(6217515_ ?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 5,309,831 | 6,217,515 |
| nssv17969592 | Submitted genomic | NC_000002.11:g.(?_ 5449964)_(6357647_ ?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 5,449,964 | 6,357,647 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969592 | GRCh37: NC_000002.11:g.(?_5449964)_(6357647_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053056.3, VCV001527770.3 |