nsv6313972
- 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:230,965
- Description:GRCh37/hg19 21q21.3(chr21:31006832-31237793) 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: 585 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 585 SVs from 55 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313972 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 29,634,512 | 29,865,476 |
| nsv6313972 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 31,006,832 | 31,237,793 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969268 | copy number loss | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV002052732.3, VCV001526713.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969268 | Remapped | Good | NC_000021.9:g.(?_2 9634512)_(29865476 _?)del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 29,634,512 | 29,865,476 |
| nssv17969268 | Submitted genomic | NC_000021.8:g.(?_3 1006832)_(31237793 _?)del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 31,006,832 | 31,237,793 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969268 | GRCh37: NC_000021.8:g.(?_31006832)_(31237793_?)del | copy number loss | germline | not specified | Uncertain significance | ClinVar | RCV002052732.3, VCV001526713.3 |