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dbVar

Database of genomic structural variation

nsv5672606

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:25,835

Description:NC_000010.10:g.(?_121411178)_(121437012_?)del AND multiple conditions
Publication(s):Hershberger et al. 2007, Miller et al. 2022

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: 108 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):119,651,666-119,677,500

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5672606	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	119,651,666	119,677,500
nsv5672606	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	121,411,178	121,437,012

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171995	deletion	Multiple	Multiple	CARDIOMYOPATHY, DILATED, 1HH; CMD1HH; Dilated cardiomyopathy 1HH; Familial isolated dilated cardiomyopathy; MYOPATHY, MYOFIBRILLAR, 6; MFM6; Muscular dystrophy, Selcen type; Myofibrillar myopathy, BAG3-related	Pathogenic	ClinVar	RCV001390924.3, VCV001076893.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171995	Remapped	Perfect	NC_000010.11:g.(?_ 119651666)_(119677 500_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	119,651,666	119,677,500
nssv17171995	Submitted genomic		NC_000010.10:g.(?_ 121411178)_(121437 012_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	121,411,178	121,437,012

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
nssv17171995	GRCh37: NC_000010.10:g.(?_121411178)_(121437012_?)del	deletion	germline	CARDIOMYOPATHY, DILATED, 1HH; CMD1HH; Dilated cardiomyopathy 1HH; Familial isolated dilated cardiomyopathy; MYOPATHY, MYOFIBRILLAR, 6; MFM6; Muscular dystrophy, Selcen type; Myofibrillar myopathy, BAG3-related	Pathogenic	ClinVar	RCV001390924.3, VCV001076893.3

No genotype data were submitted for this variant

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