A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13774



Internal ID15482052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70166209..70172817hg38UCSC Ensembl
Outerchr5:70166157..70173037hg38UCSC Ensembl
Innerchr5:69462036..69468644hg19UCSC Ensembl
Outerchr5:69461984..69468864hg19UCSC Ensembl
Innerchr5:69497792..69504400hg18UCSC Ensembl
Outerchr5:69497740..69504620hg18UCSC Ensembl
Innerchr5:69497792..69504400hg17UCSC Ensembl
Outerchr5:69497740..69504620hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg386881
hg196881
hg186881
hg176881
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)nssv13774
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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