A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20594



Internal ID15834502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144136569..144140425hg38UCSC Ensembl
Outerchr8:144133915..144140727hg38UCSC Ensembl
Innerchr8:145191472..145195328hg19UCSC Ensembl
Outerchr8:145188818..145195630hg19UCSC Ensembl
Innerchr8:145263460..145267316hg18UCSC Ensembl
Outerchr8:145260806..145267618hg18UCSC Ensembl
Innerchr8:145263460..145267316hg17UCSC Ensembl
Outerchr8:145260806..145267618hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg386813
hg196813
hg186813
hg176813
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8395
Supporting Variants
SamplesNA18517
Known GenesFAM203A
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)nssv20594
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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