A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15523



Internal ID15486838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172126792..172127346hg38UCSC Ensembl
Outerchr5:172126041..172127856hg38UCSC Ensembl
Innerchr5:171553796..171554350hg19UCSC Ensembl
Outerchr5:171553045..171554860hg19UCSC Ensembl
Innerchr5:171486401..171486955hg18UCSC Ensembl
Outerchr5:171485650..171487465hg18UCSC Ensembl
Innerchr5:171486401..171486955hg17UCSC Ensembl
Outerchr5:171485650..171487465hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381816
hg191816
hg181816
hg171816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10771
Supporting Variants
SamplesNA18504
Known GenesSTK10
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)nssv15523
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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