A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27966



Internal ID15493156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44983673..45170659hg38UCSC Ensembl
Outerchr22:44881185..45172071hg38UCSC Ensembl
Innerchr22:45379553..45566540hg19UCSC Ensembl
Outerchr22:45277065..45567952hg19UCSC Ensembl
Innerchr22:43758217..43945204hg18UCSC Ensembl
Outerchr22:43655729..43946616hg18UCSC Ensembl
Innerchr22:43700090..43887077hg17UCSC Ensembl
Outerchr22:43597602..43888489hg17UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38290887
hg19290888
hg18290888
hg17290888
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9919
Supporting Variants
SamplesNA18972
Known GenesLOC100506714, NUP50, PHF21B
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)nssv27966
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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