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dbVar

Database of genomic structural variation

nsv3887481

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:888

Description:GRCh37/hg19 4q25(chr4:111004011-111004898)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: 113 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):110,082,855-110,083,742

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3887481	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	110,082,855	110,083,742
nsv3887481	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	111,004,011	111,004,898

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15165372	copy number loss	Multiple	Multiple	not provided	Benign	ClinVar	RCV000743912.2, VCV000607276.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15165372	Remapped	Perfect	NC_000004.12:g.(?_ 110082855)_(110083 742_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	110,082,855	110,083,742
nssv15165372	Submitted genomic		NC_000004.11:g.(?_ 111004011)_(111004 898_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	111,004,011	111,004,898

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
nssv15165372	GRCh37: NC_000004.11:g.(?_111004011)_(111004898_?)del	copy number loss	unknown	not provided	Benign	ClinVar	RCV000743912.2, VCV000607276.2	1

No genotype data were submitted for this variant

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