nsv5980452
- 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:2,769,240
- Description:GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 9916 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 9275 SVs from 128 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5980452 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | - | 18,339,130 | 21,108,369 |
| nsv5980452 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,889,969 | - | 21,462,658 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17517456 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001526484.1, VCV001172566.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv17517456 | Remapped | Pass | NC_000022.11:g.(?_ 18339130)_(?_21108 369)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | - | 18,339,130 | 21,108,369 |
| nssv17517456 | Submitted genomic | NC_000022.10:g.(18 889969_?)_(?_21462 658)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,889,969 | - | 21,462,658 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17517456 | GRCh37: NC_000022.10:g.(18889969_?)_(?_21462658)del | copy number loss | inherited | See cases | Pathogenic | ClinVar | RCV001526484.1, VCV001172566.1 | 1 |