nsv6315347
- 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:20,894,500
- Description:GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)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: 67464 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 67403 SVs from 135 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315347 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 68,453 | 20,962,952 |
| nsv6315347 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 68,345 | 20,964,575 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976719 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002286359.1, VCV001707444.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976719 | Remapped | Good | NC_000004.12:g.(68 453_?)_(?_20962952 )del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 68,453 | 20,962,952 |
| nssv17976719 | Submitted genomic | NC_000004.11:g.(68 345_?)_(?_20964575 )del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 68,345 | 20,964,575 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976719 | GRCh37: NC_000004.11:g.(68345_?)_(?_20964575)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002286359.1, VCV001707444.1 | 1 |