nsv6313602
- 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:4,452,289
- Description:GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613) 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: 10865 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 10866 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313602 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 167,422,185 | 171,874,473 |
| nsv6313602 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 167,391,422 | 171,843,613 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970219 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053691.3, VCV001527359.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970219 | Remapped | Good | NC_000001.11:g.(?_ 167422185)_(171874 473_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 167,422,185 | 171,874,473 |
| nssv17970219 | Submitted genomic | NC_000001.10:g.(?_ 167391422)_(171843 613_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 167,391,422 | 171,843,613 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970219 | GRCh37: NC_000001.10:g.(?_167391422)_(171843613_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053691.3, VCV001527359.3 |