A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13295



Internal ID15482168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70813549..70827016hg38UCSC Ensembl
Outerchr5:70812947..70827971hg38UCSC Ensembl
Innerchr5:70109376..70122843hg19UCSC Ensembl
Outerchr5:70108774..70123798hg19UCSC Ensembl
Innerchr5:70145132..70158599hg18UCSC Ensembl
Outerchr5:70144530..70159554hg18UCSC Ensembl
Innerchr5:70145132..70158599hg17UCSC Ensembl
Outerchr5:70144530..70159554hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3815025
hg1915025
hg1815025
hg1715025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesSMA4
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)nssv13295
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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