nsv6636149
- 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:136
- Description:NM_005961.3(MUC6):c.5196_5331del (p.Thr1733fs) AND Lung cancer
- Publication(s):Lindeman et al. 2018
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 163 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 56 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6636149 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 1,017,470 | 1,017,605 |
| nsv6636149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,017,470 | 1,017,605 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18330695 | deletion | Multiple | Multiple | LUNG CANCER; Lung cancer | Pathogenic | ClinVar | RCV002465274.1, VCV001802449.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18330695 | Submitted genomic | NC_000011.10:g.101 7470_1017605del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 1,017,470 | 1,017,605 |
| nssv18330695 | Submitted genomic | NC_000011.9:g.1017 470_1017605del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,017,470 | 1,017,605 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18330695 | GRCh37: NC_000011.9:g.1017470_1017605del, GRCh38: NC_000011.10:g.1017470_1017605del | deletion | somatic | LUNG CANCER; Lung cancer | Pathogenic | ClinVar | RCV002465274.1, VCV001802449.1 |