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dbVar

Database of genomic structural variation

nsv5564432

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:3,761,168

Description:Single allele 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: 8390 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):68,890,100-72,651,267

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
nsv5564432	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	68,890,100	68,916,503	72,630,417	72,651,267
nsv5564432	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	68,939,251	68,965,654	72,679,568	72,700,418

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059596	deletion	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV001374461.1, VCV001064533.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17059596	Remapped	Perfect	NC_000003.12:g.(68 890100_68916503)_( 72630417_72651267) del	GRCh38.p12	First Pass	NC_000003.12	Chr3	68,890,100	68,916,503	72,630,417	72,651,267
nssv17059596	Submitted genomic		NC_000003.11:g.(68 939251_68965654)_( 72679568_72700418) del	GRCh37 (hg19)		NC_000003.11	Chr3	68,939,251	68,965,654	72,679,568	72,700,418

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
nssv17059596	GRCh37: NC_000003.11:g.(68939251_68965654)_(72679568_72700418)del	deletion	not-reported	See cases	Pathogenic	ClinVar	RCV001374461.1, VCV001064533.1

No genotype data were submitted for this variant

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