A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9896



Internal ID15501122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:30973218..31117947hg38UCSC Ensembl
Outerchr22:31369204..31513933hg19UCSC Ensembl
Outerchr22:29699204..29843933hg18UCSC Ensembl
Outerchr22:29693758..29838487hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38144730
hg19144730
hg18144730
hg17144730
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27388
SamplesNA19240
Known GenesSELM, SMTN, TUG1
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)nsv9896
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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