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nsv3910502

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:3,425,748
  • Description:NCBI36/hg18 3q13.2-13.31(chr3:113635324-116990586)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 7788 SVs from 113 studies. See in: genome view    
Remapped(Score: Perfect):112,410,526-115,836,273Question Mark
Overlapping variant regions from other studies: 7788 SVs from 113 studies. See in: genome view    
Remapped(Score: Perfect):112,129,373-115,555,120Question Mark
Overlapping variant regions from other studies: 1958 SVs from 30 studies. See in: genome view    
Submitted genomic113,612,063-117,037,810Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv3910502RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000003.12Chr3112,410,526112,433,787115,789,049115,836,273
nsv3910502RemappedPerfectGRCh37.p13Primary AssemblyFirst PassNC_000003.11Chr3112,129,373112,152,634115,507,896115,555,120
nsv3910502Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000003.10Chr3113,612,063113,635,324116,990,586117,037,810

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15126826copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000451415.2, VCV000400515.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv15126826RemappedPerfectNC_000003.12:g.(11
2410526_112433787)
_(115789049_115836
273)del
GRCh38.p12First PassNC_000003.12Chr3112,410,526112,433,787115,789,049115,836,273
nssv15126826RemappedPerfectNC_000003.11:g.(11
2129373_112152634)
_(115507896_115555
120)del
GRCh37.p13First PassNC_000003.11Chr3112,129,373112,152,634115,507,896115,555,120
nssv15126826Submitted genomicNC_000003.10:g.(11
3612063_113635324)
_(116990586_117037
810)del
NCBI36 (hg18)NC_000003.10Chr3113,612,063113,635,324116,990,586117,037,810

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15126826NCBI36: NC_000003.10:g.(113612063_113635324)_(116990586_117037810)delcopy number lossnot providedSee casesPathogenicClinVarRCV000451415.2, VCV000400515.21

No genotype data were submitted for this variant

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