U.S. flag

An official website of the United States government

nsv3885338

  • 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

Genome View

Select assembly:
Overlapping variant regions from other studies: 78 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):116,096,649-116,096,772Question Mark
Overlapping variant regions from other studies: 78 SVs from 26 studies. See in: genome view    
Submitted genomic116,534,454-116,534,577Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3885338RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr12116,096,649116,096,772
nsv3885338Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr12116,534,454116,534,577

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15130801deletionMultipleMultipleCongenitally uncorrected transposition of the great arteries; TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1; Transposition of the great arteries, dextro-looped 1Uncertain significanceClinVarRCV000524994.1, VCV000464484.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15130801RemappedPerfectNC_000012.12:g.(?_
116096649)_(116096
772_?)del
GRCh38.p12First PassNC_000012.12Chr12116,096,649116,096,772
nssv15130801Submitted genomicNC_000012.11:g.(?_
116534454)_(116534
577_?)del
GRCh37 (hg19)NC_000012.11Chr12116,534,454116,534,577

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15130801GRCh37: NC_000012.11:g.(?_116534454)_(116534577_?)deldeletiongermlineCongenitally uncorrected transposition of the great arteries; TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1; DTGA1; Transposition of the great arteries, dextro-looped 1Uncertain significanceClinVarRCV000524994.1, VCV000464484.1

No genotype data were submitted for this variant

Support Center