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dbVar

Database of genomic structural variation

nsv4456885

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:395,377

Description:GRCh37/hg19 8p22(chr8:17487884-17883260)x1 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: 1901 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):17,630,375-18,025,751

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4456885	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	17,630,375	18,025,751
nsv4456885	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	17,487,884	17,883,260

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773041	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000848845.2, VCV000688154.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773041	Remapped	Perfect	NC_000008.11:g.(?_ 17630375)_(1802575 1_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	17,630,375	18,025,751
nssv15773041	Submitted genomic		NC_000008.10:g.(?_ 17487884)_(1788326 0_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	17,487,884	17,883,260

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
nssv15773041	GRCh37: NC_000008.10:g.(?_17487884)_(17883260_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000848845.2, VCV000688154.2	1

No genotype data were submitted for this variant

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