nsv6313968
- 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:3,211,454
- Description:GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660) 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: 11178 SVs from 104 studies. See in: genome view
Overlapping variant regions from other studies: 11176 SVs from 104 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313968 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 43,055,310 | 46,266,763 |
| nsv6313968 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 43,451,316 | 46,662,660 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969294 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052758.3, VCV001526739.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969294 | Remapped | Good | NC_000022.11:g.(?_ 43055310)_(4626676 3_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 43,055,310 | 46,266,763 |
| nssv17969294 | Submitted genomic | NC_000022.10:g.(?_ 43451316)_(4666266 0_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 43,451,316 | 46,662,660 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969294 | GRCh37: NC_000022.10:g.(?_43451316)_(46662660_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002052758.3, VCV001526739.3 |