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dbVar

Database of genomic structural variation

nsv5381397

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:27,926

Description:NC_000007.13:g.(?_128470672)_(128498597_?)dup AND multiple conditions
Publication(s):Miller et al. 2021, 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: 208 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):128,830,618-128,858,543

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381397	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	128,830,618	128,858,543
nsv5381397	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	128,470,672	128,498,597

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867261	duplication	Multiple	Multiple	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant; Distal myopathy with posterior leg and anterior hand involvement; Familial isolated restrictive cardiomyopathy; MYOPATHY, DISTAL, 4; MPD4; MYOPATHY, MYOFIBRILLAR, 5; MFM5; Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4	Uncertain significance	ClinVar	RCV001345438.2, VCV001041610.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867261	Remapped	Perfect	NC_000007.14:g.(?_ 128830618)_(128858 543_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,830,618	128,858,543
nssv16867261	Submitted genomic		NC_000007.13:g.(?_ 128470672)_(128498 597_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	128,470,672	128,498,597

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
nssv16867261	GRCh37: NC_000007.13:g.(?_128470672)_(128498597_?)dup	duplication	germline	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26; CMH26; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant; Distal myopathy with posterior leg and anterior hand involvement; Familial isolated restrictive cardiomyopathy; MYOPATHY, DISTAL, 4; MPD4; MYOPATHY, MYOFIBRILLAR, 5; MFM5; Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4	Uncertain significance	ClinVar	RCV001345438.2, VCV001041610.2

No genotype data were submitted for this variant

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