A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9793



Internal ID15847705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:23958976..24754214hg38UCSC Ensembl
Outerchr20:23939613..24734850hg19UCSC Ensembl
Outerchr20:23887613..24682850hg18UCSC Ensembl
Outerchr20:23887613..24682850hg17UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38795239
hg19795238
hg18795238
hg17795238
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27899, nssv27694, nssv26040
SamplesNA18860, NA18537, NA18972
Known GenesFLJ33581, GGTLC1, SYNDIG1
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)nsv9793
Frequency
Sample Size31
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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