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dbVar

Database of genomic structural variation

nsv3884602

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:599,461

Description:Single allele 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: 1802 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):94,570,964-95,170,424

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3884602	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	94,570,964	95,170,424
nsv3884602	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	95,492,115	96,091,575

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15153171	duplication	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV000677923.2, VCV000560046.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15153171	Remapped	Perfect	NC_000004.12:g.945 70964_95170424dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	94,570,964	95,170,424
nssv15153171	Submitted genomic		NC_000004.11:g.954 92115_96091575dup	GRCh37 (hg19)		NC_000004.11	Chr4	95,492,115	96,091,575

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
nssv15153171	GRCh37: NC_000004.11:g.95492115_96091575dup	duplication	paternal	not provided	Likely benign	ClinVar	RCV000677923.2, VCV000560046.2	3

No genotype data were submitted for this variant

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