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dbVar

Database of genomic structural variation

nsv7097567

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:293,782

Description:NC_000006.11:g.(?_123539746)_(123833527_?)del AND Catecholaminergic polymorphic ventricular tachycardia 1
Publication(s):ACMG Board of Directors et al. 2014, Ackerman et al. 2011, Green et al. 2013, Kalia et al. 2016, Miller et al. 2021, Miller et al. 2022, Napolitano et al. 2004, Priori et al. 2013

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: 809 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):123,218,601-123,512,382

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097567	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	123,218,601	123,512,382
nsv7097567	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	123,539,746	123,833,527

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790669	deletion	Multiple	Multiple	Catecholaminergic Polymorphic Ventricular Tachycardia; Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1	Uncertain significance	ClinVar	RCV003116515.2, VCV002425498.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790669	Remapped	Perfect	NC_000006.12:g.(?_ 123218601)_(123512 382_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	123,218,601	123,512,382
nssv18790669	Submitted genomic		NC_000006.11:g.(?_ 123539746)_(123833 527_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	123,539,746	123,833,527

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
nssv18790669	GRCh37: NC_000006.11:g.(?_123539746)_(123833527_?)del	deletion	germline	Catecholaminergic Polymorphic Ventricular Tachycardia; Catecholaminergic polymorphic ventricular tachycardia; Catecholaminergic polymorphic ventricular tachycardia; VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1	Uncertain significance	ClinVar	RCV003116515.2, VCV002425498.2

No genotype data were submitted for this variant

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