A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13776



Internal ID15483008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71202429..71237993hg38UCSC Ensembl
Outerchr5:71202073..71238354hg38UCSC Ensembl
Innerchr5:70498256..70533820hg19UCSC Ensembl
Outerchr5:70497900..70534181hg19UCSC Ensembl
Innerchr5:70534012..70569576hg18UCSC Ensembl
Outerchr5:70533656..70569937hg18UCSC Ensembl
Innerchr5:70534012..70569576hg17UCSC Ensembl
Outerchr5:70533656..70569937hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3836282
hg1936282
hg1836282
hg1736282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
Known GenesGUSBP9
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)nssv13776
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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