A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10793



Internal ID15499070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181347706..181462876hg38UCSC Ensembl
Outerchr5:180774707..180889877hg19UCSC Ensembl
Outerchr5:180707313..180822483hg18UCSC Ensembl
Outerchr5:180707313..180822483hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38115171
hg19115171
hg18115171
hg17115171
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13925, nssv13927, nssv14466, nssv16283, nssv13120, nssv14549, nssv13935, nssv14519, nssv12799, nssv14344
SamplesNA11830, NA12802, NA10839, NA10847, NA10863, NA18572, NA18537, NA19173, NA18972
Known GenesOR4F16, OR4F29, OR4F3
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)nsv10793
Frequency
Sample Size31
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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