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nsv3895627

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:484
  • Description:GRCh37/hg19 12q24.21(chr12:116715268-116715751)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 113 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):116,277,463-116,277,946Question Mark
Overlapping variant regions from other studies: 113 SVs from 31 studies. See in: genome view    
Submitted genomic116,715,268-116,715,751Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3895627RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr12116,277,463116,277,946
nsv3895627Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr12116,715,268116,715,751

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15171231copy number lossMultipleMultiplenot providedBenignClinVarRCV000750596.2, VCV000613960.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15171231RemappedPerfectNC_000012.12:g.(?_
116277463)_(116277
946_?)del
GRCh38.p12First PassNC_000012.12Chr12116,277,463116,277,946
nssv15171231Submitted genomicNC_000012.11:g.(?_
116715268)_(116715
751_?)del
GRCh37 (hg19)NC_000012.11Chr12116,715,268116,715,751

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15171231GRCh37: NC_000012.11:g.(?_116715268)_(116715751_?)delcopy number lossunknownnot providedBenignClinVarRCV000750596.2, VCV000613960.21

No genotype data were submitted for this variant

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