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dbVar

Database of genomic structural variation

nsv7094199

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:1,894

Description:NC_000012.11:g.(?_116418535)_(116420428_?)del AND Transposition of the great arteries, dextro-looped

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: 75 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):115,980,730-115,982,623

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094199	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	115,980,730	115,982,623
nsv7094199	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	116,418,535	116,420,428

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786731	deletion	Multiple	Multiple	Congenitally uncorrected transposition of the great arteries; TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1; Transposition of the great arteries, dextro-looped 1	Pathogenic	ClinVar	RCV003119576.1, VCV002426138.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786731	Remapped	Perfect	NC_000012.12:g.(?_ 115980730)_(115982 623_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	115,980,730	115,982,623
nssv18786731	Submitted genomic		NC_000012.11:g.(?_ 116418535)_(116420 428_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	116,418,535	116,420,428

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
nssv18786731	GRCh37: NC_000012.11:g.(?_116418535)_(116420428_?)del	deletion	germline	Congenitally uncorrected transposition of the great arteries; TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1; Transposition of the great arteries, dextro-looped 1	Pathogenic	ClinVar	RCV003119576.1, VCV002426138.4

No genotype data were submitted for this variant

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