A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12799



Internal ID15490580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181355826..181460725hg38UCSC Ensembl
Outerchr5:181347706..181461178hg38UCSC Ensembl
Innerchr5:180782827..180887726hg19UCSC Ensembl
Outerchr5:180774707..180888179hg19UCSC Ensembl
Innerchr5:180715433..180820332hg18UCSC Ensembl
Outerchr5:180707313..180820785hg18UCSC Ensembl
Innerchr5:180715433..180820332hg17UCSC Ensembl
Outerchr5:180707313..180820785hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38113473
hg19113473
hg18113473
hg17113473
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10793
Supporting Variants
SamplesNA18572
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)nssv12799
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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