nsv6313719
- 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:9,202,173
- Description:GRCh37/hg19 1q23.3-24.3(chr1:162330810-171532331) 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: 21205 SVs from 122 studies. See in: genome view
Overlapping variant regions from other studies: 21200 SVs from 122 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313719 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 162,361,020 | 171,563,192 |
| nsv6313719 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 162,330,810 | 171,532,331 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17970208 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053680.3, VCV001527348.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17970208 | Remapped | Good | NC_000001.11:g.(?_ 162361020)_(171563 192_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 162,361,020 | 171,563,192 |
| nssv17970208 | Submitted genomic | NC_000001.10:g.(?_ 162330810)_(171532 331_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 162,330,810 | 171,532,331 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17970208 | GRCh37: NC_000001.10:g.(?_162330810)_(171532331_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053680.3, VCV001527348.3 |