A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13166



Internal ID15494490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69785233..69793188hg38UCSC Ensembl
Outerchr5:69784774..69793203hg38UCSC Ensembl
Innerchr5:69081060..69089015hg19UCSC Ensembl
Outerchr5:69080601..69089030hg19UCSC Ensembl
Innerchr5:69116816..69124771hg18UCSC Ensembl
Outerchr5:69116357..69124786hg18UCSC Ensembl
Innerchr5:69116816..69124771hg17UCSC Ensembl
Outerchr5:69116357..69124786hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg388430
hg198430
hg188430
hg178430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA19007
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)nssv13166
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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