A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9876



Internal ID15501102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23221144..23580872hg38UCSC Ensembl
Outerchr22:23563331..23923059hg19UCSC Ensembl
Outerchr22:21893331..22253059hg18UCSC Ensembl
Outerchr22:21887885..22247613hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38359729
hg19359729
hg18359729
hg17359729
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25773, nssv26362, nssv27775, nssv28116, nssv25191
SamplesNA18860, NA10839, NA10863, NA18537, NA19132
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)nsv9876
Frequency
Sample Size31
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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