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dbVar

Database of genomic structural variation

nsv3887269

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:362

Description:NC_000012.11:g.(?_2224370)_(2224731_?)dup AND Long QT syndrome
Publication(s):Alders et al. 2003, Miller et al. 2022, 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: 110 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):2,115,204-2,115,565

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3887269	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	2,115,204	2,115,565
nsv3887269	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_018654718.1	Chr12\|NW_0 18654718.1	457,348	457,709
nsv3887269	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	2,224,370	2,224,731

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15129164	duplication	Multiple	Multiple	Long QT Syndrome; Long QT Syndrome; Long QT syndrome; Long QT syndrome; Prolonged QT interval	Uncertain significance	ClinVar	RCV000526912.6, VCV000456852.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15129164	Remapped	Perfect	NW_018654718.1:g.( ?_457348)_(457709_ ?)dup	GRCh38.p12	Second Pass	NW_018654718.1	Chr12\|NW_0 18654718.1	457,348	457,709
nssv15129164	Remapped	Perfect	NC_000012.12:g.(?_ 2115204)_(2115565_ ?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	2,115,204	2,115,565
nssv15129164	Submitted genomic		NC_000012.11:g.(?_ 2224370)_(2224731_ ?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	2,224,370	2,224,731

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
nssv15129164	GRCh37: NC_000012.11:g.(?_2224370)_(2224731_?)dup	duplication	germline	Long QT Syndrome; Long QT Syndrome; Long QT syndrome; Long QT syndrome; Prolonged QT interval	Uncertain significance	ClinVar	RCV000526912.6, VCV000456852.6

No genotype data were submitted for this variant

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