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dbVar

Database of genomic structural variation

nsv4682891

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:442

Description:NC_000007.14:g.(?_128848551)_(128848992_?)del 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: 169 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):128,848,551-128,848,992

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	128,848,551	128,848,992
nsv4682891	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	128,488,605	128,489,046

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213297	deletion	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	Pathogenic	ClinVar	RCV001031450.4, VCV000830847.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213297	Remapped	Perfect	NC_000007.14:g.(?_ 128848551)_(128848 992_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	128,848,551	128,848,992
nssv16213297	Submitted genomic		NC_000007.13:g.(?_ 128488605)_(128489 046_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	128,488,605	128,489,046

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
nssv16213297	GRCh37: NC_000007.13:g.(?_128488605)_(128489046_?)del	deletion	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	Pathogenic	ClinVar	RCV001031450.4, VCV000830847.4

No genotype data were submitted for this variant

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