nsv6634516
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:81
- Description:NM_000314.8(PTEN):c.219_253+46del AND Hereditary cancer-predisposing syndrome
- Publication(s):Hampel et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 86 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6634516 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 87,931,054 | 87,931,134 |
| nsv6634516 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 89,690,811 | 89,690,891 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18326718 | deletion | Multiple | Multiple | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Pathogenic | ClinVar | RCV002425549.1, VCV001787406.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18326718 | Submitted genomic | NC_000010.11:g.879 31054_87931134del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 87,931,054 | 87,931,134 |
| nssv18326718 | Submitted genomic | NC_000010.10:g.896 90811_89690891del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 89,690,811 | 89,690,891 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18326718 | GRCh37: NC_000010.10:g.89690811_89690891del, GRCh38: NC_000010.11:g.87931054_87931134del | deletion | germline | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Pathogenic | ClinVar | RCV002425549.1, VCV001787406.1 |