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dbVar

Database of genomic structural variation

nsv6634592

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:96

Description:
See descriptions for individual calls in download files
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: 280 SVs from 64 studies. See in: genome view

Submitted genomic195,782,549-195,782,644

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv6634592	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000003.12	Chr3	195,782,549	195,782,644
nsv6634592	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000003.11	Chr3	195,509,420	195,509,515

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326595	deletion	Multiple	Multiple	HEPATOCELLULAR CARCINOMA; Hepatocellular carcinoma; Hepatocellular carcinoma	Pathogenic	ClinVar	RCV002302783.2, VCV001713058.3
nssv18330666	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	RCV002464621.1, VCV001713058.3
nssv18330667	deletion	Multiple	Multiple	LUNG CANCER; Lung cancer	Pathogenic	ClinVar	RCV002464622.1, VCV001713058.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv18326595	Submitted genomic	NC_000003.12:g.195 782549_195782644de l	GRCh38 (hg38)	NC_000003.12	Chr3	195,782,549	195,782,644
nssv18330666	Submitted genomic	NC_000003.12:g.195 782549_195782644de l	GRCh38 (hg38)	NC_000003.12	Chr3	195,782,549	195,782,644
nssv18330667	Submitted genomic	NC_000003.12:g.195 782549_195782644de l	GRCh38 (hg38)	NC_000003.12	Chr3	195,782,549	195,782,644
nssv18326595	Submitted genomic	NC_000003.11:g.195 509420_195509515de l	GRCh37 (hg19)	NC_000003.11	Chr3	195,509,420	195,509,515
nssv18330666	Submitted genomic	NC_000003.11:g.195 509420_195509515de l	GRCh37 (hg19)	NC_000003.11	Chr3	195,509,420	195,509,515
nssv18330667	Submitted genomic	NC_000003.11:g.195 509420_195509515de l	GRCh37 (hg19)	NC_000003.11	Chr3	195,509,420	195,509,515

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
nssv18326595	GRCh37: NC_000003.11:g.195509420_195509515del, GRCh38: NC_000003.12:g.195782549_195782644del	deletion	somatic	HEPATOCELLULAR CARCINOMA; Hepatocellular carcinoma; Hepatocellular carcinoma	Pathogenic	ClinVar	RCV002302783.2, VCV001713058.3
nssv18330666	GRCh37: NC_000003.11:g.195509420_195509515del, GRCh38: NC_000003.12:g.195782549_195782644del	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	RCV002464621.1, VCV001713058.3
nssv18330667	GRCh37: NC_000003.11:g.195509420_195509515del, GRCh38: NC_000003.12:g.195782549_195782644del	deletion	somatic	LUNG CANCER; Lung cancer	Pathogenic	ClinVar	RCV002464622.1, VCV001713058.3

No genotype data were submitted for this variant

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