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dbVar

Database of genomic structural variation

nsv5380731

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:8,631

Description:
See descriptions for individual calls in download files
Publication(s):Goodeve et al. 2009, Sutherland et al. 2009

Links to Other Resources

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: 156 SVs from 43 studies. See in: genome view

Submitted genomic6,103,315-6,111,945

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Start	Stop
nsv5380731	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000012.12	Chr12	6,103,315	6,111,945
nsv5380731	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000012.11	Chr12	6,212,481	6,221,111

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16865867	deletion	Multiple	Multiple	not provided	not provided	ClinVar	RCV000144413.1, VCV000156329.2
nssv17976504	deletion	Multiple	Multiple	VON WILLEBRAND DISEASE, TYPE 1; VWD1; Von Willebrand disease; Von Willebrand disease type 1; von Willebrand Disease; von Willebrand disease type 1	Pathogenic	ClinVar	RCV002271339.1, VCV000156329.2
nssv17976505	deletion	Multiple	Multiple	VON WILLEBRAND DISEASE, TYPE 3; VWD3; von Willebrand Disease; von Willebrand disease type 3	Pathogenic	ClinVar	RCV002271340.1, VCV000156329.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Start	Stop
nssv16865867	Submitted genomic	NC_000012.12:g.610 3315_6111945del	GRCh38 (hg38)	NC_000012.12	Chr12	6,103,315	6,111,945
nssv17976504	Submitted genomic	NC_000012.12:g.610 3315_6111945del	GRCh38 (hg38)	NC_000012.12	Chr12	6,103,315	6,111,945
nssv17976505	Submitted genomic	NC_000012.12:g.610 3315_6111945del	GRCh38 (hg38)	NC_000012.12	Chr12	6,103,315	6,111,945
nssv16865867	Submitted genomic	NC_000012.11:g.621 2481_6221111del	GRCh37 (hg19)	NC_000012.11	Chr12	6,212,481	6,221,111
nssv17976504	Submitted genomic	NC_000012.11:g.621 2481_6221111del	GRCh37 (hg19)	NC_000012.11	Chr12	6,212,481	6,221,111
nssv17976505	Submitted genomic	NC_000012.11:g.621 2481_6221111del	GRCh37 (hg19)	NC_000012.11	Chr12	6,212,481	6,221,111

No validation data were submitted for this variant

Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16865867	GRCh37: NC_000012.11:g.6212481_6221111del, GRCh38: NC_000012.12:g.6103315_6111945del	deletion	germline	not provided	not provided	ClinVar	RCV000144413.1, VCV000156329.2
nssv17976504	GRCh37: NC_000012.11:g.6212481_6221111del, GRCh38: NC_000012.12:g.6103315_6111945del	deletion	germline	VON WILLEBRAND DISEASE, TYPE 1; VWD1; Von Willebrand disease; Von Willebrand disease type 1; von Willebrand Disease; von Willebrand disease type 1	Pathogenic	ClinVar	RCV002271339.1, VCV000156329.2
nssv17976505	GRCh37: NC_000012.11:g.6212481_6221111del, GRCh38: NC_000012.12:g.6103315_6111945del	deletion	germline	VON WILLEBRAND DISEASE, TYPE 3; VWD3; von Willebrand Disease; von Willebrand disease type 3	Pathogenic	ClinVar	RCV002271340.1, VCV000156329.2

No genotype data were submitted for this variant

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