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dbVar

Database of genomic structural variation

nsv3885338

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:124

Description:NC_000012.11:g.(?_116534454)_(116534577_?)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: 78 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):116,096,649-116,096,772

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3885338	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	116,096,649	116,096,772
nsv3885338	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	116,534,454	116,534,577

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15130801	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	Uncertain significance	ClinVar	RCV000524994.1, VCV000464484.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15130801	Remapped	Perfect	NC_000012.12:g.(?_ 116096649)_(116096 772_?)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	116,096,649	116,096,772
nssv15130801	Submitted genomic		NC_000012.11:g.(?_ 116534454)_(116534 577_?)del	GRCh37 (hg19)		NC_000012.11	Chr12	116,534,454	116,534,577

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
nssv15130801	GRCh37: NC_000012.11:g.(?_116534454)_(116534577_?)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	Uncertain significance	ClinVar	RCV000524994.1, VCV000464484.1

No genotype data were submitted for this variant

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