nsv4450053
- 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:85,060
- Description:NC_000005.10:g.(?_132557315)_(132642374_?)del 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: 176 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4450053 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 132,557,315 | 132,642,374 |
| nsv4450053 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 131,893,007 | 131,978,066 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15774112 | deletion | Multiple | Multiple | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Pathogenic | ClinVar | RCV000820608.2, VCV000662868.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15774112 | Submitted genomic | NC_000005.10:g.(?_ 132557315)_(132642 374_?)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 132,557,315 | 132,642,374 |
| nssv15774112 | Submitted genomic | NC_000005.9:g.(?_1 31893007)_(1319780 66_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 131,893,007 | 131,978,066 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15774112 | GRCh37: NC_000005.9:g.(?_131893007)_(131978066_?)del, GRCh38: NC_000005.10:g.(?_132557315)_(132642374_?)del | deletion | germline | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Pathogenic | ClinVar | RCV000820608.2, VCV000662868.2 |