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dbVar

Database of genomic structural variation

nsv6634619

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:144

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: 257 SVs from 64 studies. See in: genome view

Submitted genomic195,788,127-195,788,270

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv6634619	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000003.12	Chr3	195,788,127	195,788,270
nsv6634619	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000003.11	Chr3	195,514,998	195,515,141

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326605	deletion	Multiple	Multiple	HEPATOCELLULAR CARCINOMA; Hepatocellular carcinoma; Hepatocellular carcinoma	Pathogenic	ClinVar	RCV002302780.2, VCV001713055.3
nssv18330664	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	RCV002464619.1, VCV001713055.3
nssv18330665	deletion	Multiple	Multiple	LUNG CANCER; Lung cancer	Pathogenic	ClinVar	RCV002464620.1, VCV001713055.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv18326605	Submitted genomic	NC_000003.12:g.195 788127_195788270de l	GRCh38 (hg38)	NC_000003.12	Chr3	195,788,127	195,788,270
nssv18330664	Submitted genomic	NC_000003.12:g.195 788127_195788270de l	GRCh38 (hg38)	NC_000003.12	Chr3	195,788,127	195,788,270
nssv18330665	Submitted genomic	NC_000003.12:g.195 788127_195788270de l	GRCh38 (hg38)	NC_000003.12	Chr3	195,788,127	195,788,270
nssv18326605	Submitted genomic	NC_000003.11:g.195 514998_195515141de l	GRCh37 (hg19)	NC_000003.11	Chr3	195,514,998	195,515,141
nssv18330664	Submitted genomic	NC_000003.11:g.195 514998_195515141de l	GRCh37 (hg19)	NC_000003.11	Chr3	195,514,998	195,515,141
nssv18330665	Submitted genomic	NC_000003.11:g.195 514998_195515141de l	GRCh37 (hg19)	NC_000003.11	Chr3	195,514,998	195,515,141

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
nssv18326605	GRCh37: NC_000003.11:g.195514998_195515141del, GRCh38: NC_000003.12:g.195788127_195788270del	deletion	somatic	HEPATOCELLULAR CARCINOMA; Hepatocellular carcinoma; Hepatocellular carcinoma	Pathogenic	ClinVar	RCV002302780.2, VCV001713055.3
nssv18330664	GRCh37: NC_000003.11:g.195514998_195515141del, GRCh38: NC_000003.12:g.195788127_195788270del	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	RCV002464619.1, VCV001713055.3
nssv18330665	GRCh37: NC_000003.11:g.195514998_195515141del, GRCh38: NC_000003.12:g.195788127_195788270del	deletion	somatic	LUNG CANCER; Lung cancer	Pathogenic	ClinVar	RCV002464620.1, VCV001713055.3

No genotype data were submitted for this variant

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