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dbVar

Database of genomic structural variation

nsv6310629

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:1,121,587

Description:NC_000019.9:g.(?_35521725)_(36643309_?)del AND Brugada syndrome 5
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: 3980 SVs from 106 studies. See in: genome view

Remapped(Score: Perfect):35,030,821-36,152,407

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310629	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	35,030,821	36,152,407
nsv6310629	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	35,521,725	36,643,309

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974584	deletion	Multiple	Multiple	BRUGADA SYNDROME 5; BRGDA5; Brugada Syndrome; Brugada syndrome; Brugada syndrome 5; Familial progressive cardiac conduction defect; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001910265.4, VCV001412985.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974584	Remapped	Perfect	NC_000019.10:g.(?_ 35030821)_(3615240 7_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	35,030,821	36,152,407
nssv17974584	Submitted genomic		NC_000019.9:g.(?_3 5521725)_(36643309 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	35,521,725	36,643,309

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
nssv17974584	GRCh37: NC_000019.9:g.(?_35521725)_(36643309_?)del	deletion	germline	BRUGADA SYNDROME 5; BRGDA5; Brugada Syndrome; Brugada syndrome; Brugada syndrome 5; Familial progressive cardiac conduction defect; Server error < EMBL-EBI	Uncertain significance	ClinVar	RCV001910265.4, VCV001412985.4

No genotype data were submitted for this variant

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