A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13056



Internal ID15482613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69671101..69699523hg38UCSC Ensembl
Outerchr5:69670474..69700218hg38UCSC Ensembl
Innerchr5:68966928..68995350hg19UCSC Ensembl
Outerchr5:68966301..68996045hg19UCSC Ensembl
Innerchr5:69002684..69031106hg18UCSC Ensembl
Outerchr5:69002057..69031801hg18UCSC Ensembl
Innerchr5:69002684..69031106hg17UCSC Ensembl
Outerchr5:69002057..69031801hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3829745
hg1929745
hg1829745
hg1729745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA10863
Known GenesGUSBP3, 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)nssv13056
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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