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dbVar

Database of genomic structural variation

nsv7137096

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:691,204

Description:GRCh37/hg19 11p15.4(chr11:5094756-5785959)x3 AND See cases

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: 3206 SVs from 114 studies. See in: genome view

Remapped(Score: Perfect):5,073,526-5,764,729

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7137096	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	5,073,526	5,764,729
nsv7137096	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	5,094,756	5,785,959

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18830780	copy number gain	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV003317674.1, VCV002573338.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18830780	Remapped	Perfect	NC_000011.10:g.507 3526_5764729dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	5,073,526	5,764,729
nssv18830780	Submitted genomic		NC_000011.9:g.5094 756_5785959dup	GRCh37 (hg19)		NC_000011.9	Chr11	5,094,756	5,785,959

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	Copy number
nssv18830780	GRCh37: NC_000011.9:g.5094756_5785959dup	copy number gain	maternal	See cases	Likely benign	ClinVar	RCV003317674.1, VCV002573338.1	3

No genotype data were submitted for this variant

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