A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28116



Internal ID15491763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23301005..23578225hg38UCSC Ensembl
Outerchr22:23221144..23580872hg38UCSC Ensembl
Innerchr22:23643192..23920412hg19UCSC Ensembl
Outerchr22:23563331..23923059hg19UCSC Ensembl
Innerchr22:21973192..22250412hg18UCSC Ensembl
Outerchr22:21893331..22253059hg18UCSC Ensembl
Innerchr22:21967746..22244966hg17UCSC Ensembl
Outerchr22:21887885..22247613hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38359729
hg19359729
hg18359729
hg17359729
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9876
Supporting Variants
SamplesNA18860
Known GenesBCR, CES5AP1, FBXW4P1, IGLL1, 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)nssv28116
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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