A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26362



Internal ID15487969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23310932..23473142hg38UCSC Ensembl
Outerchr22:23310423..23480768hg38UCSC Ensembl
Innerchr22:23653119..23815329hg19UCSC Ensembl
Outerchr22:23652610..23822955hg19UCSC Ensembl
Innerchr22:21983119..22145329hg18UCSC Ensembl
Outerchr22:21982610..22152955hg18UCSC Ensembl
Innerchr22:21977673..22139883hg17UCSC Ensembl
Outerchr22:21977164..22147509hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38170346
hg19170346
hg18170346
hg17170346
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9876
Supporting Variants
SamplesNA18537
Known GenesBCR, CES5AP1, ZDHHC8P1
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)nssv26362
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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