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dbVar

Database of genomic structural variation

nsv3882398

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:43,829,075

Description:Single allele 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: 138911 SVs from 146 studies. See in: genome view

Remapped(Score: Good):146,146,635-189,975,709

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3882398	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	146,146,635	189,975,709
nsv3882398	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	147,067,787	190,896,864
nsv3882398	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	147,287,237	191,133,858

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151639	duplication	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000677148.2, VCV000559451.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15151639	Remapped	Good	NC_000004.12:g.146 146635_189975709du p	GRCh38.p12	First Pass	NC_000004.12	Chr4	146,146,635	189,975,709
nssv15151639	Remapped	Good	NC_000004.11:g.147 067787_190896864du p	GRCh37.p13	First Pass	NC_000004.11	Chr4	147,067,787	190,896,864
nssv15151639	Submitted genomic		NC_000004.10:g.147 287237_191133858du p	NCBI36 (hg18)		NC_000004.10	Chr4	147,287,237	191,133,858

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
nssv15151639	NCBI36: NC_000004.10:g.147287237_191133858dup	duplication	unknown	not provided	Pathogenic	ClinVar	RCV000677148.2, VCV000559451.2	3

No genotype data were submitted for this variant

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