nsv5980446
- 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:12,618,209
- Description:GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)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: 42866 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 42396 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5980446 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 121,025,510 | 133,643,718 |
| nsv5980446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 122,785,023 | 135,457,222 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17517460 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV001526488.1, VCV001172570.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17517460 | Remapped | Good | NC_000010.11:g.(12 1025510_?)_(?_1336 43718)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 121,025,510 | 133,643,718 |
| nssv17517460 | Submitted genomic | NC_000010.10:g.(12 2785023_?)_(?_1354 57222)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 122,785,023 | 135,457,222 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17517460 | GRCh37: NC_000010.10:g.(122785023_?)_(?_135457222)del | copy number loss | inherited | See cases | Pathogenic | ClinVar | RCV001526488.1, VCV001172570.1 | 1 |