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dbVar

Database of genomic structural variation

nsv7097568

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:64

Description:NC_000006.11:g.(?_123573537)_(123573600_?)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: 111 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):123,252,392-123,252,455

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097568	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	123,252,392	123,252,455
nsv7097568	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	123,573,537	123,573,600

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790666	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	RCV003116512.1, VCV002425495.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790666	Remapped	Perfect	NC_000006.12:g.(?_ 123252392)_(123252 455_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	123,252,392	123,252,455
nssv18790666	Submitted genomic		NC_000006.11:g.(?_ 123573537)_(123573 600_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	123,573,537	123,573,600

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
nssv18790666	GRCh37: NC_000006.11:g.(?_123573537)_(123573600_?)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	RCV003116512.1, VCV002425495.2

No genotype data were submitted for this variant

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