A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27906



Internal ID15493150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36563168..36564403hg38UCSC Ensembl
Outerchr22:36562569..36565188hg38UCSC Ensembl
Innerchr22:36959215..36960450hg19UCSC Ensembl
Outerchr22:36958616..36961235hg19UCSC Ensembl
Innerchr22:35289161..35290396hg18UCSC Ensembl
Outerchr22:35288562..35291181hg18UCSC Ensembl
Innerchr22:35283715..35284950hg17UCSC Ensembl
Outerchr22:35283116..35285735hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg382620
hg192620
hg182620
hg172620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9900
Supporting Variants
SamplesNA18972
Known GenesCACNG2
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)nssv27906
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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