A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12298



Internal ID15842822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:69158392..69427461hg38UCSC Ensembl
Outerchr4:69155751..69428541hg38UCSC Ensembl
Innerchr4:70024110..70293179hg19UCSC Ensembl
Outerchr4:70021469..70294259hg19UCSC Ensembl
Innerchr4:70058699..70327768hg18UCSC Ensembl
Outerchr4:70056058..70328848hg18UCSC Ensembl
Innerchr4:70204870..70473939hg17UCSC Ensembl
Outerchr4:70202229..70475019hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38272791
hg19272791
hg18272791
hg17272791
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10524
Supporting Variants
SamplesNA19144
Known GenesUGT2B11, UGT2B28
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv12298
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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