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dbVar

Database of genomic structural variation

nsv6314916

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:14,883,011

Description:
NC_000004.12:g.67833055_82716065del 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: 41664 SVs from 135 studies. See in: genome view

Submitted genomic67,833,055-82,716,065

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6314916	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	67,833,055	82,716,065
nsv6314916	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	68,698,773	83,637,218

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830797	deletion	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV003313802.6, VCV001684642.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18830797	Submitted genomic		NC_000004.12:g.678 33055_82716065del	GRCh38 (hg38)		NC_000004.12	Chr4	67,833,055	82,716,065
nssv18830797	Remapped	Good	NC_000004.11:g.686 98773_83637218del	GRCh37.p13	First Pass	NC_000004.11	Chr4	68,698,773	83,637,218

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
nssv18830797	GRCh38: NC_000004.12:g.67833055_82716065del	deletion	germline	See cases	Pathogenic	ClinVar	RCV003313802.6, VCV001684642.4

No genotype data were submitted for this variant

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