A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13864



Internal ID15482071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70820371..70829543hg38UCSC Ensembl
Outerchr5:70820151..70829912hg38UCSC Ensembl
Innerchr5:70116198..70125370hg19UCSC Ensembl
Outerchr5:70115978..70125739hg19UCSC Ensembl
Innerchr5:70151954..70161126hg18UCSC Ensembl
Outerchr5:70151734..70161495hg18UCSC Ensembl
Innerchr5:70151954..70161126hg17UCSC Ensembl
Outerchr5:70151734..70161495hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg389762
hg199762
hg189762
hg179762
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10839
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)nssv13864
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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