A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26123



Internal ID15494752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42494644..42585099hg38UCSC Ensembl
Outerchr22:42493449..42585567hg38UCSC Ensembl
Innerchr22:42890650..42981105hg19UCSC Ensembl
Outerchr22:42889455..42981573hg19UCSC Ensembl
Innerchr22:41220594..41311049hg18UCSC Ensembl
Outerchr22:41219399..41311517hg18UCSC Ensembl
Innerchr22:41215148..41305603hg17UCSC Ensembl
Outerchr22:41213953..41306071hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3892119
hg1992119
hg1892119
hg1792119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9912
Supporting Variants
SamplesNA19007
Known GenesPOLDIP3, RRP7A, RRP7B, SERHL, SERHL2
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)nssv26123
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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