A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593794



Internal ID16381203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:20405968..20406810hg38UCSC Ensembl
Innerchr4:20407591..20408433hg19UCSC Ensembl
Innerchr4:20016689..20017531hg18UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg38843
hg19843
hg18843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv994249, nssv994287, nssv994261, nssv994235, nssv994228, nssv994253, nssv994299, nssv994270, nssv994233, nssv994279, nssv994294, nssv994247, nssv994291, nssv994248, nssv994250, nssv994300, nssv994276, nssv994272, nssv994274, nssv994295, nssv994281, nssv994237, nssv994241, nssv994251, nssv994283, nssv994256, nssv994245, nssv994254, nssv994239, nssv994255, nssv994271, nssv994258, nssv994289, nssv994267, nssv994230, nssv994260, nssv994297, nssv994288, nssv994240, nssv994234, nssv994284, nssv994286, nssv994268, nssv994298, nssv994259, nssv994243, nssv994269, nssv994242, nssv994282, nssv994293, nssv994236, nssv994252, nssv994244, nssv994278, nssv994231, nssv994264, nssv994273, nssv994296, nssv994262, nssv994229, nssv994280, nssv994290, nssv994292, nssv994263, nssv994232, nssv994265, nssv994246, nssv994238, nssv994266, nssv994257, nssv994275, nssv994285, nssv994277
Samples
Known GenesSLIT2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593794
Frequency
Sample Size17421
Observed Gain0
Observed Loss73
Observed Complex0
Frequencyn/a


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