A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22992



Internal ID15492494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45573864..45580093hg38UCSC Ensembl
Outerchr17:45573066..45580988hg38UCSC Ensembl
Innerchr17:43651230..43657459hg19UCSC Ensembl
Outerchr17:43650432..43658354hg19UCSC Ensembl
Innerchr17:41007013..41013242hg18UCSC Ensembl
Outerchr17:41006215..41014137hg18UCSC Ensembl
Innerchr17:41007013..41013242hg17UCSC Ensembl
Outerchr17:41006215..41014137hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387923
hg197923
hg187923
hg177923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA18942
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)nssv22992
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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