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dbVar

Database of genomic structural variation

nsv3910502

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:3,425,748

Description:NCBI36/hg18 3q13.2-13.31(chr3:113635324-116990586)x1 AND See cases

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: 7788 SVs from 113 studies. See in: genome view

Remapped(Score: Perfect):112,410,526-115,836,273

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3910502	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	112,410,526	112,433,787	115,789,049	115,836,273
nsv3910502	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	112,129,373	112,152,634	115,507,896	115,555,120
nsv3910502	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000003.10	Chr3	113,612,063	113,635,324	116,990,586	117,037,810

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126826	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451415.2, VCV000400515.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15126826	Remapped	Perfect	NC_000003.12:g.(11 2410526_112433787) _(115789049_115836 273)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	112,410,526	112,433,787	115,789,049	115,836,273
nssv15126826	Remapped	Perfect	NC_000003.11:g.(11 2129373_112152634) _(115507896_115555 120)del	GRCh37.p13	First Pass	NC_000003.11	Chr3	112,129,373	112,152,634	115,507,896	115,555,120
nssv15126826	Submitted genomic		NC_000003.10:g.(11 3612063_113635324) _(116990586_117037 810)del	NCBI36 (hg18)		NC_000003.10	Chr3	113,612,063	113,635,324	116,990,586	117,037,810

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
nssv15126826	NCBI36: NC_000003.10:g.(113612063_113635324)_(116990586_117037810)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451415.2, VCV000400515.2	1

No genotype data were submitted for this variant

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