nsv6313604
- 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:5,780,300
- Description:GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042) 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: 14165 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 14164 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313604 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 160,447,506 | 166,227,805 |
| nsv6313604 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 160,417,296 | 166,197,042 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970186 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053658.3, VCV001527326.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970186 | Remapped | Good | NC_000001.11:g.(?_ 160447506)_(166227 805_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 160,447,506 | 166,227,805 |
| nssv17970186 | Submitted genomic | NC_000001.10:g.(?_ 160417296)_(166197 042_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 160,417,296 | 166,197,042 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970186 | GRCh37: NC_000001.10:g.(?_160417296)_(166197042_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053658.3, VCV001527326.3 |