A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18348



Internal ID15489837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112842945..112844789hg38UCSC Ensembl
Outerchr9:112842363..112846632hg38UCSC Ensembl
Innerchr9:115605225..115607069hg19UCSC Ensembl
Outerchr9:115604643..115608912hg19UCSC Ensembl
Innerchr9:114645046..114646890hg18UCSC Ensembl
Outerchr9:114644464..114648733hg18UCSC Ensembl
Innerchr9:112684780..112686624hg17UCSC Ensembl
Outerchr9:112684198..112688467hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg384270
hg194270
hg184270
hg174270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8560
Supporting Variants
SamplesNA18564
Known GenesSNX30
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)nssv18348
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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