A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14109



Internal ID15484322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70111775..70129525hg38UCSC Ensembl
Outerchr5:70111118..70130054hg38UCSC Ensembl
Innerchr5:69407602..69425352hg19UCSC Ensembl
Outerchr5:69406945..69425881hg19UCSC Ensembl
Innerchr5:69443358..69461108hg18UCSC Ensembl
Outerchr5:69442701..69461637hg18UCSC Ensembl
Innerchr5:69443358..69461108hg17UCSC Ensembl
Outerchr5:69442701..69461637hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3818937
hg1918937
hg1818937
hg1718937
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10707
Supporting Variants
SamplesNA12740
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)nssv14109
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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