nsv6634398
- 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:3,836,643
- Description:GRCh37/hg19 2q37.3(chr2:239229304-243199373)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 17529 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 17582 SVs from 131 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6634398 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 238,320,663 | 242,157,305 |
| nsv6634398 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 239,229,304 | 243,199,373 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326326 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002293050.4, VCV001711534.5 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18326326 | Remapped | Good | NC_000002.12:g.(?_ 238320663)_(242157 305_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 238,320,663 | 242,157,305 |
| nssv18326326 | Submitted genomic | NC_000002.11:g.(?_ 239229304)_(243199 373_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 239,229,304 | 243,199,373 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18326326 | GRCh37: NC_000002.11:g.(?_239229304)_(243199373_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV002293050.4, VCV001711534.5 | 1 |