A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23259



Internal ID15829272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37419124..37420141hg38UCSC Ensembl
Outerchr17:37416920..37423288hg38UCSC Ensembl
Innerchr17:35779208..35780224hg19UCSC Ensembl
Outerchr17:35777005..35783388hg19UCSC Ensembl
Innerchr17:32853321..32854337hg18UCSC Ensembl
Outerchr17:32851118..32857501hg18UCSC Ensembl
Innerchr17:32853321..32854337hg17UCSC Ensembl
Outerchr17:32851118..32857501hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg386369
hg196384
hg186384
hg176384
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9543
Supporting Variants
SamplesNA10863
Known GenesTADA2A
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)nssv23259
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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