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dbVar

Database of genomic structural variation

nsv7093870

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:71

Description:NC_000010.10:g.(?_18629856)_(18629926_?)dup AND Brugada syndrome 4
Publication(s):Brugada et al. 2005

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: 44 SVs from 13 studies. See in: genome view

Remapped(Score: Perfect):18,340,927-18,340,997

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093870	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	18,340,927	18,340,997
nsv7093870	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	18,629,856	18,629,926

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790352	duplication	Multiple	Multiple	BRUGADA SYNDROME 4; BRGDA4; Brugada Syndrome; Brugada syndrome; Brugada syndrome 4	Uncertain significance	ClinVar	RCV003114018.2, VCV002427688.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790352	Remapped	Perfect	NC_000010.11:g.(?_ 18340927)_(1834099 7_?)dup	GRCh38.p12	First Pass	NC_000010.11	Chr10	18,340,927	18,340,997
nssv18790352	Submitted genomic		NC_000010.10:g.(?_ 18629856)_(1862992 6_?)dup	GRCh37 (hg19)		NC_000010.10	Chr10	18,629,856	18,629,926

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
nssv18790352	GRCh37: NC_000010.10:g.(?_18629856)_(18629926_?)dup	duplication	germline	BRUGADA SYNDROME 4; BRGDA4; Brugada Syndrome; Brugada syndrome; Brugada syndrome 4	Uncertain significance	ClinVar	RCV003114018.2, VCV002427688.2

No genotype data were submitted for this variant

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