A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114405



Internal ID21297671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128876095..128880791hg38UCSC Ensembl
Innerchr12:129360640..129365336hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg384697
hg194697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14090380
Samplessample15
Known GenesGLT1D1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114405
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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