nsv6634628
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:143
- Description:
See descriptions for individual calls in download files - Publication(s):Lindeman et al. 2018
- ClinVar: RCV002302740.2
- ClinVar: RCV002464602.1
- ClinVar: RCV002464603.1
- ClinVar: VCV001713015.3
- HP: 0001402
- HP: 0030357
- MONDO: 0007256
- MONDO: 0008433
- MONDO: 0008903
- MeSH: D055752
- MedGen: C0149925
- MedGen: C0242379
- MedGen: C2239176
- OMIM: 114550
- OMIM: 182280
- OMIM: 211980
- OMIM: 614041.0010
- Orphanet: 70573
- PubMed: 29398453
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 275 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 275 SVs from 63 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv6634628 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 195,784,577 | 195,784,719 |
nsv6634628 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,511,448 | 195,511,590 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18326614 | deletion | Multiple | Multiple | HEPATOCELLULAR CARCINOMA; Hepatocellular carcinoma; Hepatocellular carcinoma | Pathogenic | ClinVar | RCV002302740.2, VCV001713015.3 |
nssv18330653 | deletion | Multiple | Multiple | SMALL CELL CANCER OF THE LUNG; See individual phenotypes in OMIM allelic variants; Small Cell Lung Carcinoma; Small cell lung cancer; Small cell lung cancer; Small cell lung carcinoma | Pathogenic | ClinVar | RCV002464602.1, VCV001713015.3 |
nssv18330654 | deletion | Multiple | Multiple | LUNG CANCER; Lung cancer | Pathogenic | ClinVar | RCV002464603.1, VCV001713015.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv18326614 | Submitted genomic | NC_000003.12:g.195 784577_195784719de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 195,784,577 | 195,784,719 |
nssv18330653 | Submitted genomic | NC_000003.12:g.195 784577_195784719de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 195,784,577 | 195,784,719 |
nssv18330654 | Submitted genomic | NC_000003.12:g.195 784577_195784719de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 195,784,577 | 195,784,719 |
nssv18326614 | Submitted genomic | NC_000003.11:g.195 511448_195511590de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,511,448 | 195,511,590 |
nssv18330653 | Submitted genomic | NC_000003.11:g.195 511448_195511590de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,511,448 | 195,511,590 |
nssv18330654 | Submitted genomic | NC_000003.11:g.195 511448_195511590de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,511,448 | 195,511,590 |
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 |
---|---|---|---|---|---|---|---|
nssv18326614 | GRCh37: NC_000003.11:g.195511448_195511590del, GRCh38: NC_000003.12:g.195784577_195784719del | deletion | somatic | HEPATOCELLULAR CARCINOMA; Hepatocellular carcinoma; Hepatocellular carcinoma | Pathogenic | ClinVar | RCV002302740.2, VCV001713015.3 |
nssv18330653 | GRCh37: NC_000003.11:g.195511448_195511590del, GRCh38: NC_000003.12:g.195784577_195784719del | deletion | somatic | SMALL CELL CANCER OF THE LUNG; See individual phenotypes in OMIM allelic variants; Small Cell Lung Carcinoma; Small cell lung cancer; Small cell lung cancer; Small cell lung carcinoma | Pathogenic | ClinVar | RCV002464602.1, VCV001713015.3 |
nssv18330654 | GRCh37: NC_000003.11:g.195511448_195511590del, GRCh38: NC_000003.12:g.195784577_195784719del | deletion | somatic | LUNG CANCER; Lung cancer | Pathogenic | ClinVar | RCV002464603.1, VCV001713015.3 |