A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20144



Internal ID15487888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12402558..12412064hg38UCSC Ensembl
Outerchr8:12402365..12412390hg38UCSC Ensembl
Innerchr8:12260067..12269573hg19UCSC Ensembl
Outerchr8:12259874..12269899hg19UCSC Ensembl
Innerchr8:12304438..12313944hg18UCSC Ensembl
Outerchr8:12304245..12314270hg18UCSC Ensembl
Innerchr8:12304438..12313944hg17UCSC Ensembl
Outerchr8:12304245..12314270hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3810026
hg1910026
hg1810026
hg1710026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18517
Known GenesFAM66A
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)nssv20144
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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