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

dbVar

Database of genomic structural variation

nsv3879671

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:80,555

Description:
See descriptions for individual calls in download files
Publication(s):Duffy et al. 2013, Hampel et al. 2014, Wong et al. 2012

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: 248 SVs from 46 studies. See in: genome view

Remapped(Score: Good):54,658,009-54,738,563

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3879671	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	54,658,009	54,738,563
nsv3879671	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	55,524,176	55,604,729

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15130224	duplication	Multiple	Multiple	GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor	Uncertain significance	ClinVar	RCV000633943.2, VCV000528721.1
nssv15144349	deletion	Multiple	Multiple	GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor	Pathogenic	ClinVar	RCV000708063.2, VCV000583798.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15130224	Remapped	Good	NC_000004.12:g.(?_ 54658009)_(5473856 3_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	54,658,009	54,738,563
nssv15144349	Remapped	Good	NC_000004.12:g.(?_ 54658009)_(5473856 3_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	54,658,009	54,738,563
nssv15130224	Submitted genomic		NC_000004.11:g.(?_ 55524176)_(5560472 9_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	55,524,176	55,604,729
nssv15144349	Submitted genomic		NC_000004.11:g.(?_ 55524176)_(5560472 9_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	55,524,176	55,604,729

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
nssv15130224	GRCh37: NC_000004.11:g.(?_55524176)_(55604729_?)dup	duplication	germline	GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor	Uncertain significance	ClinVar	RCV000633943.2, VCV000528721.1
nssv15144349	GRCh37: NC_000004.11:g.(?_55524176)_(55604729_?)del	deletion	germline	GASTROINTESTINAL STROMAL TUMOR; GIST; Gastrointestinal Stromal Tumors; Gastrointestinal stroma tumor; Gastrointestinal stroma tumor; Gastrointestinal stromal tumor	Pathogenic	ClinVar	RCV000708063.2, VCV000583798.1

No genotype data were submitted for this variant

You are here: NCBI