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dbVar

Database of genomic structural variation

nsv4769375

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:1,201,635

Description:GRCh37/hg19 8p12(chr8:32691933-33893567)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: 3053 SVs from 89 studies. See in: genome view

Remapped(Score: Perfect):32,834,415-34,036,049

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4769375	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	32,834,415	34,036,049
nsv4769375	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	32,691,933	33,893,567

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16297074	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001270668.4, VCV000988938.4	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16297074	Remapped	Perfect	NC_000008.11:g.328 34415_34036049dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	32,834,415	34,036,049
nssv16297074	Submitted genomic		NC_000008.10:g.326 91933_33893567dup	GRCh37 (hg19)		NC_000008.10	Chr8	32,691,933	33,893,567

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
nssv16297074	GRCh37: NC_000008.10:g.32691933_33893567dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV001270668.4, VCV000988938.4	3

No genotype data were submitted for this variant

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