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dbVar

Database of genomic structural variation

nsv3923759

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:42,688,424

Description:NCBI36/hg18 4q12-23(chr4:58887580-102109610)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: 117852 SVs from 144 studies. See in: genome view

Remapped(Score: Good):58,301,079-100,989,502

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
nsv3923759	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	58,301,079	58,301,079	100,989,502	100,989,502
nsv3923759	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	59,167,245	59,167,245	101,910,659	101,910,659
nsv3923759	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000004.10	Chr4	58,862,002	58,887,580	102,109,610	102,129,682

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125766	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451534.2, VCV000398809.2	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
nssv15125766	Remapped	Good	NC_000004.12:g.(58 301079_58301079)_( 100989502_10098950 2)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	58,301,079	58,301,079	100,989,502	100,989,502
nssv15125766	Remapped	Good	NC_000004.11:g.(59 167245_59167245)_( 101910659_10191065 9)del	GRCh37.p13	First Pass	NC_000004.11	Chr4	59,167,245	59,167,245	101,910,659	101,910,659
nssv15125766	Submitted genomic		NC_000004.10:g.(58 862002_58887580)_( 102109610_10212968 2)del	NCBI36 (hg18)		NC_000004.10	Chr4	58,862,002	58,887,580	102,109,610	102,129,682

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
nssv15125766	NCBI36: NC_000004.10:g.(58862002_58887580)_(102109610_102129682)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451534.2, VCV000398809.2	1

No genotype data were submitted for this variant

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