Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6289907

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:10,206

Description:NC_000003.11:g.10179846_10190051del AND Von Hippel-Lindau syndrome
Publication(s):ACMG Board of Directors et al. 2014, Chen et al. 2010, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, Lenders et al. 2014, Miller et al. 2021, Miller et al. 2022, No authors et al. 2021, No authors et al. 2021, Reaume et al. 2013, Trepanier et al. 2004, van Leeuwaarde et al. 2000

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 136 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):10,138,162-10,148,367

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6289907	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	10,138,162	10,148,367
nsv6289907	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	10,179,846	10,190,051

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17955682	deletion	Multiple	Multiple	VON HIPPEL-LINDAU SYNDROME; VHLS; Von Hippel-Lindau Syndrome; Von Hippel-Lindau disease; Von Hippel-Lindau syndrome	Pathogenic	ClinVar	RCV001293301.1, VCV000997744.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17955682	Remapped	Perfect	NC_000003.12:g.101 38162_10148367del	GRCh38.p12	First Pass	NC_000003.12	Chr3	10,138,162	10,148,367
nssv17955682	Submitted genomic		NC_000003.11:g.101 79846_10190051del	GRCh37 (hg19)		NC_000003.11	Chr3	10,179,846	10,190,051

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
nssv17955682	GRCh37: NC_000003.11:g.10179846_10190051del	deletion	germline	VON HIPPEL-LINDAU SYNDROME; VHLS; Von Hippel-Lindau Syndrome; Von Hippel-Lindau disease; Von Hippel-Lindau syndrome	Pathogenic	ClinVar	RCV001293301.1, VCV000997744.1

No genotype data were submitted for this variant

You are here: NCBI