A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25773



Internal ID15481581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23316585..23472929hg38UCSC Ensembl
Outerchr22:23313770..23473142hg38UCSC Ensembl
Innerchr22:23658772..23815116hg19UCSC Ensembl
Outerchr22:23655957..23815329hg19UCSC Ensembl
Innerchr22:21988772..22145116hg18UCSC Ensembl
Outerchr22:21985957..22145329hg18UCSC Ensembl
Innerchr22:21983326..22139670hg17UCSC Ensembl
Outerchr22:21980511..22139883hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38159373
hg19159373
hg18159373
hg17159373
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9876
Supporting Variants
SamplesNA10839
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)nssv25773
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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