A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23360



Internal ID15493394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45573864..45584217hg38UCSC Ensembl
Outerchr17:45573066..45585159hg38UCSC Ensembl
Innerchr17:43651230..43661583hg19UCSC Ensembl
Outerchr17:43650432..43662525hg19UCSC Ensembl
Innerchr17:41007013..41017366hg18UCSC Ensembl
Outerchr17:41006215..41018308hg18UCSC Ensembl
Innerchr17:41007013..41017366hg17UCSC Ensembl
Outerchr17:41006215..41018308hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3812094
hg1912094
hg1812094
hg1712094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA18975
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)nssv23360
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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