A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13265



Internal ID15482452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70763384..70763462hg38UCSC Ensembl
Outerchr5:70761720..70765663hg38UCSC Ensembl
Innerchr5:70059211..70059289hg19UCSC Ensembl
Outerchr5:70057547..70061490hg19UCSC Ensembl
Innerchr5:70094967..70095045hg18UCSC Ensembl
Outerchr5:70093303..70097246hg18UCSC Ensembl
Innerchr5:70094967..70095045hg17UCSC Ensembl
Outerchr5:70093303..70097246hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383944
hg193944
hg183944
hg173944
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10847
Known GenesGUSBP9, SMA4
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)nssv13265
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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