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dbVar

Database of genomic structural variation

nsv5380710

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:18,542

Description:NC_000010.10:g.(?_121411168)_(121429709_?)dup 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: 90 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):119,651,656-119,670,197

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380710	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	119,651,656	119,670,197
nsv5380710	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	121,411,168	121,429,709

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866266	duplication	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	Uncertain significance	ClinVar	RCV001304727.6, VCV001007536.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866266	Remapped	Perfect	NC_000010.11:g.(?_ 119651656)_(119670 197_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	119,651,656	119,670,197
nssv16866266	Submitted genomic		NC_000010.10:g.(?_ 121411168)_(121429 709_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	121,411,168	121,429,709

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
nssv16866266	GRCh37: NC_000010.10:g.(?_121411168)_(121429709_?)dup	duplication	germline	CARDIOMYOPATHY, DILATED, 1HH; CMD1HH; Dilated cardiomyopathy 1HH; Familial isolated dilated cardiomyopathy; MYOPATHY, MYOFIBRILLAR, 6; MFM6; Muscular dystrophy, Selcen type; Myofibrillar myopathy, BAG3-related	Uncertain significance	ClinVar	RCV001304727.6, VCV001007536.6

No genotype data were submitted for this variant

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