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dbVar

Database of genomic structural variation

nsv3883874

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:296,802

Description:GRCh37/hg19 3p21.31-21.2(chr3:50435928-50732729)x3 AND not provided

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: 593 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):50,398,497-50,695,298

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3883874	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	50,398,497	50,695,298
nsv3883874	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	50,435,928	50,732,729

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15153476	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000682257.1, VCV000562768.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15153476	Remapped	Perfect	NC_000003.12:g.(?_ 50398497)_(5069529 8_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	50,398,497	50,695,298
nssv15153476	Submitted genomic		NC_000003.11:g.(?_ 50435928)_(5073272 9_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	50,435,928	50,732,729

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	Copy number
nssv15153476	GRCh37: NC_000003.11:g.(?_50435928)_(50732729_?)dup	copy number gain	germline	not provided	Uncertain significance	ClinVar	RCV000682257.1, VCV000562768.1	3

No genotype data were submitted for this variant

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