nsv6635992
- 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_018406.7(MUC4):c.3365_3460del (p.1090PVTDTSSASTGHATSLPVTDTSSVSTGHTTPL[1]) 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: 253 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6635992 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 195,788,120 | 195,788,215 |
| nsv6635992 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,514,991 | 195,515,086 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18330693 | deletion | Multiple | Multiple | LUNG CANCER; Lung cancer | Pathogenic | ClinVar | RCV002465253.1, VCV001802430.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18330693 | Submitted genomic | NC_000003.12:g.195 788120_195788215de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 195,788,120 | 195,788,215 |
| nssv18330693 | Submitted genomic | NC_000003.11:g.195 514991_195515086de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,514,991 | 195,515,086 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18330693 | GRCh37: NC_000003.11:g.195514991_195515086del, GRCh38: NC_000003.12:g.195788120_195788215del | deletion | somatic | LUNG CANCER; Lung cancer | Pathogenic | ClinVar | RCV002465253.1, VCV001802430.1 |