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dbVar

Database of genomic structural variation

nsv6636401

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:603,588

Description:GRCh37/hg19 8p12(chr8:31406614-32010201)x4 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: 1338 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):31,549,098-32,152,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636401	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	31,549,098	32,152,685
nsv6636401	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	31,406,614	32,010,201

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18329946	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002473678.1, VCV001808361.1	4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18329946	Remapped	Perfect	NC_000008.11:g.(?_ 31549098)_(3215268 5_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	31,549,098	32,152,685
nssv18329946	Submitted genomic		NC_000008.10:g.(?_ 31406614)_(3201020 1_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	31,406,614	32,010,201

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
nssv18329946	GRCh37: NC_000008.10:g.(?_31406614)_(32010201_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV002473678.1, VCV001808361.1	4

No genotype data were submitted for this variant

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