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dbVar

Database of genomic structural variation

nsv3920706

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:330,986

Description:NCBI36/hg18 4q32.2(chr4:161595605-161866456)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: 1052 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):160,426,898-160,757,883

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
nsv3920706	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	160,426,898	160,455,003	160,725,854	160,757,883
nsv3920706	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	161,348,050	161,376,155	161,647,006	161,679,035
nsv3920706	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	161,567,500	161,595,605	161,866,456	161,898,485

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15128142	copy number loss	Multiple	Multiple	See cases	Likely benign	ClinVar	RCV000452382.2, VCV000398397.2	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
nssv15128142	Remapped	Perfect	NC_000004.12:g.(16 0426898_160455003) _(160725854_160757 883)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	160,426,898	160,455,003	160,725,854	160,757,883
nssv15128142	Remapped	Perfect	NC_000004.11:g.(16 1348050_161376155) _(161647006_161679 035)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	161,348,050	161,376,155	161,647,006	161,679,035
nssv15128142	Submitted genomic		NC_000004.10:g.(16 1567500_161595605) _(161866456_161898 485)del	NCBI36 (hg18)		NC_000004.10	Chr4	161,567,500	161,595,605	161,866,456	161,898,485

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
nssv15128142	NCBI36: NC_000004.10:g.(161567500_161595605)_(161866456_161898485)del	copy number loss	not provided	See cases	Likely benign	ClinVar	RCV000452382.2, VCV000398397.2	1

No genotype data were submitted for this variant

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