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dbVar

Database of genomic structural variation

nsv7097590

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:54,455

Description:NC_000006.11:g.(?_75858054)_(75912508_?)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: 160 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):75,148,338-75,202,792

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097590	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	75,148,338	75,202,792
nsv7097590	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	75,858,054	75,912,508

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789803	duplication	Multiple	Multiple	BETHLEM MYOPATHY 2; BTHLM2; Bethlem myopathy; Bethlem myopathy 2; Congenital muscular dystrophy, Ullrich type; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2; Ullrich congenital muscular dystrophy 2	Uncertain significance	ClinVar	RCV003113455.2, VCV002425088.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789803	Remapped	Perfect	NC_000006.12:g.(?_ 75148338)_(7520279 2_?)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	75,148,338	75,202,792
nssv18789803	Submitted genomic		NC_000006.11:g.(?_ 75858054)_(7591250 8_?)dup	GRCh37 (hg19)		NC_000006.11	Chr6	75,858,054	75,912,508

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
nssv18789803	GRCh37: NC_000006.11:g.(?_75858054)_(75912508_?)dup	duplication	germline	BETHLEM MYOPATHY 2; BTHLM2; Bethlem myopathy; Bethlem myopathy 2; Congenital muscular dystrophy, Ullrich type; ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2; Ullrich congenital muscular dystrophy 2	Uncertain significance	ClinVar	RCV003113455.2, VCV002425088.3

No genotype data were submitted for this variant

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