A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25924



Internal ID15484159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45573864..45578409hg38UCSC Ensembl
Outerchr17:45573066..45579034hg38UCSC Ensembl
Innerchr17:43651230..43655775hg19UCSC Ensembl
Outerchr17:43650432..43656400hg19UCSC Ensembl
Innerchr17:41007013..41011558hg18UCSC Ensembl
Outerchr17:41006215..41012183hg18UCSC Ensembl
Innerchr17:41007013..41011558hg17UCSC Ensembl
Outerchr17:41006215..41012183hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385969
hg195969
hg185969
hg175969
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA12155
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)nssv25924
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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