A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13247



Internal ID15489138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80661586..80666853hg38UCSC Ensembl
Outerchr5:80660627..80669130hg38UCSC Ensembl
Innerchr5:79957405..79962672hg19UCSC Ensembl
Outerchr5:79956446..79964949hg19UCSC Ensembl
Innerchr5:79993161..79998428hg18UCSC Ensembl
Outerchr5:79992202..80000705hg18UCSC Ensembl
Innerchr5:79993161..79998428hg17UCSC Ensembl
Outerchr5:79992202..80000705hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388504
hg198504
hg188504
hg178504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10710
Supporting Variants
SamplesNA18563
Known GenesMSH3
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)nssv13247
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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