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dbVar

Database of genomic structural variation

nsv6311795

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:2,835,062

Description:NC_000003.11:g.(?_40924962)_(43760024_?)dup AND Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8

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: 6502 SVs from 107 studies. See in: genome view

Remapped(Score: Perfect):40,883,471-43,718,532

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311795	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	40,883,471	43,718,532
nsv6311795	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	40,924,962	43,760,024

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968958	duplication	Multiple	Multiple	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; Walker-Warburg syndrome	Uncertain significance	ClinVar	RCV001979130.2, VCV001441558.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17968958	Remapped	Perfect	NC_000003.12:g.(?_ 40883471)_(4371853 2_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	40,883,471	43,718,532
nssv17968958	Submitted genomic		NC_000003.11:g.(?_ 40924962)_(4376002 4_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	40,924,962	43,760,024

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
nssv17968958	GRCh37: NC_000003.11:g.(?_40924962)_(43760024_?)dup	duplication	germline	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8; MDDGA8; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; Walker-Warburg syndrome	Uncertain significance	ClinVar	RCV001979130.2, VCV001441558.2

No genotype data were submitted for this variant

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