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dbVar

Database of genomic structural variation

nsv7097360

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:216,953

Description:NC_000007.13:g.(?_16131320)_(16348272_?)dup AND multiple conditions

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: 655 SVs from 78 studies. See in: genome view

Remapped(Score: Perfect):16,091,695-16,308,647

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097360	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	16,091,695	16,308,647
nsv7097360	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	16,131,320	16,348,272

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787547	duplication	Multiple	Multiple	Autosomal recessive limb-girdle muscular dystrophy type 2U; Autosomal recessive limb-girdle muscular dystrophy type 2U; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7; MDDGC7; Walker-Warburg syndrome	Uncertain significance	ClinVar	RCV003122545.2, VCV002423713.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787547	Remapped	Perfect	NC_000007.14:g.(?_ 16091695)_(1630864 7_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	16,091,695	16,308,647
nssv18787547	Submitted genomic		NC_000007.13:g.(?_ 16131320)_(1634827 2_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	16,131,320	16,348,272

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
nssv18787547	GRCh37: NC_000007.13:g.(?_16131320)_(16348272_?)dup	duplication	germline	Autosomal recessive limb-girdle muscular dystrophy type 2U; Autosomal recessive limb-girdle muscular dystrophy type 2U; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7; MDDGA7; MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7; MDDGC7; Walker-Warburg syndrome	Uncertain significance	ClinVar	RCV003122545.2, VCV002423713.3

No genotype data were submitted for this variant

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