nsv6313668
- 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:19,567,249
- Description:GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) 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: 52732 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 52705 SVs from 132 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313668 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 218,741,814 | 238,309,062 |
| nsv6313668 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 219,606,537 | 239,217,703 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969813 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053285.3, VCV001526953.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969813 | Remapped | Good | NC_000002.12:g.(?_ 218741814)_(238309 062_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 218,741,814 | 238,309,062 |
| nssv17969813 | Submitted genomic | NC_000002.11:g.(?_ 219606537)_(239217 703_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 219,606,537 | 239,217,703 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969813 | GRCh37: NC_000002.11:g.(?_219606537)_(239217703_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053285.3, VCV001526953.3 |