nsv6634537
- 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:96
- Description:NM_000797.4(DRD4):c.807_902del (p.Arg271_Pro302del) AND Hepatocellular carcinoma
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 186 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 45 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6634537 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 640,004 | 640,099 |
| nsv6634537 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 640,004 | 640,099 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18326585 | deletion | Multiple | Multiple | HEPATOCELLULAR CARCINOMA; Hepatocellular carcinoma; Hepatocellular carcinoma | Pathogenic | ClinVar | RCV002302810.2, VCV001713085.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18326585 | Submitted genomic | NC_000011.10:g.640 004_640099del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 640,004 | 640,099 |
| nssv18326585 | Submitted genomic | NC_000011.9:g.6400 04_640099del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 640,004 | 640,099 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18326585 | GRCh37: NC_000011.9:g.640004_640099del, GRCh38: NC_000011.10:g.640004_640099del | deletion | somatic | HEPATOCELLULAR CARCINOMA; Hepatocellular carcinoma; Hepatocellular carcinoma | Pathogenic | ClinVar | RCV002302810.2, VCV001713085.2 |