A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10524



Internal ID15845487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69155751..69428541hg38UCSC Ensembl
Outerchr4:70021469..70294259hg19UCSC Ensembl
Outerchr4:70056058..70328848hg18UCSC Ensembl
Outerchr4:70202229..70475019hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38272791
hg19272791
hg18272791
hg17272791
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv12394, nssv12631, nssv13347, nssv13328, nssv11942, nssv29107, nssv13298, nssv12543, nssv11531, nssv13394, nssv11856, nssv12558, nssv12205, nssv12354, nssv11957, nssv11932, nssv11645, nssv12007, nssv13633, nssv13454, nssv29206, nssv11925, nssv29236, nssv12549, nssv13377, nssv12206, nssv12809, nssv13603, nssv12298, nssv12230, nssv12235, nssv13573
SamplesNA11830, NA18980, NA07029, NA18504, NA12155, NA18563, NA12802, NA18942, NA07048, NA10839, NA18975, NA19007, NA10847, NA10863, NA12872, NA18572, NA18537, NA18853, NA19132, NA18517, NA18564, NA19240, NA19144, NA12740, NA19173
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)nsv10524
Frequency
Sample Size31
Observed Gain23
Observed Loss2
Observed Complex0
Frequencyn/a


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