nsv6315565
- 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:3,959,987
- Description:GRCh37/hg19 10q11.22-11.23(chr10:49378356-52467181)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: 11632 SVs from 133 studies. See in: genome view
Overlapping variant regions from other studies: 5922 SVs from 110 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 | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv6315565 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | - | 45,999,930 | 49,959,916 | - |
| nsv6315565 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 49,378,356 | - | - | 52,467,181 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17976732 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002286348.1, VCV001707432.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv17976732 | Remapped | Pass | NC_000010.11:g.(?_ 45999930)_(4995991 6_?)del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | - | 45,999,930 | 49,959,916 | - |
| nssv17976732 | Submitted genomic | NC_000010.10:g.(49 378356_?)_(?_52467 181)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 49,378,356 | - | - | 52,467,181 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17976732 | GRCh37: NC_000010.10:g.(49378356_?)_(?_52467181)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV002286348.1, VCV001707432.1 | 1 |