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dbVar

Database of genomic structural variation

nsv7095439

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:33,957

Description:NC_000018.9:g.(?_28647981)_(28681934_?)dup 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: 202 SVs from 36 studies. See in: genome view

Remapped(Score: Good):31,068,015-31,101,971

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095439	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	31,068,015	31,101,971
nsv7095439	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	28,647,981	28,681,934

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787653	duplication	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	Uncertain significance	ClinVar	RCV003122655.2, VCV002426822.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787653	Remapped	Good	NC_000018.10:g.(?_ 31068015)_(3110197 1_?)dup	GRCh38.p12	First Pass	NC_000018.10	Chr18	31,068,015	31,101,971
nssv18787653	Submitted genomic		NC_000018.9:g.(?_2 8647981)_(28681934 _?)dup	GRCh37 (hg19)		NC_000018.9	Chr18	28,647,981	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
nssv18787653	GRCh37: NC_000018.9:g.(?_28647981)_(28681934_?)dup	duplication	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	Uncertain significance	ClinVar	RCV003122655.2, VCV002426822.2

No genotype data were submitted for this variant

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