A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20363



Internal ID15839481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:119143994..119146259hg38UCSC Ensembl
Outerchr8:119136831..119147387hg38UCSC Ensembl
Innerchr8:120156233..120158498hg19UCSC Ensembl
Outerchr8:120149070..120159626hg19UCSC Ensembl
Innerchr8:120225414..120227679hg18UCSC Ensembl
Outerchr8:120218251..120228807hg18UCSC Ensembl
Innerchr8:120225414..120227679hg17UCSC Ensembl
Outerchr8:120218251..120228807hg17UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg3810557
hg1910557
hg1810557
hg1710557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8385
Supporting Variants
SamplesNA18972
Known Genes
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)nssv20363
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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