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dbVar

Database of genomic structural variation

nsv5564284

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:347

Description:NC_000010.10:g.(?_121429353)_(121429699_?)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: 59 SVs from 15 studies. See in: genome view

Remapped(Score: Perfect):119,669,841-119,670,187

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564284	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	119,669,841	119,670,187
nsv5564284	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	121,429,353	121,429,699

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059316	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	RCV001362809.3, VCV001054324.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059316	Remapped	Perfect	NC_000010.11:g.(?_ 119669841)_(119670 187_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	119,669,841	119,670,187
nssv17059316	Submitted genomic		NC_000010.10:g.(?_ 121429353)_(121429 699_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	121,429,353	121,429,699

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
nssv17059316	GRCh37: NC_000010.10:g.(?_121429353)_(121429699_?)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	RCV001362809.3, VCV001054324.3

No genotype data were submitted for this variant

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