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dbVar

Database of genomic structural variation

nsv7095378

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:89

Description:NC_000018.9:g.(?_28681846)_(28681934_?)del AND Arrhythmogenic right ventricular dysplasia 11
Publication(s):ACMG Board of Directors et al. 2014, Green et al. 2013, Kalia et al. 2016, McNally et al. 2005, 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: 123 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):31,101,883-31,101,971

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095378	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	31,101,883	31,101,971
nsv7095378	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	28,681,846	28,681,934

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787651	deletion	Multiple	Multiple	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 11; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003122653.2, VCV002426820.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787651	Remapped	Perfect	NC_000018.10:g.(?_ 31101883)_(3110197 1_?)del	GRCh38.p12	First Pass	NC_000018.10	Chr18	31,101,883	31,101,971
nssv18787651	Submitted genomic		NC_000018.9:g.(?_2 8681846)_(28681934 _?)del	GRCh37 (hg19)		NC_000018.9	Chr18	28,681,846	28,681,934

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
nssv18787651	GRCh37: NC_000018.9:g.(?_28681846)_(28681934_?)del	deletion	germline	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11; ARVD11; Arrhythmogenic Right Ventricular Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy, type 11; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV003122653.2, VCV002426820.2

No genotype data were submitted for this variant

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