A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27874



Internal ID15493145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24616469..24659257hg38UCSC Ensembl
Outerchr22:24609042..24659430hg38UCSC Ensembl
Innerchr22:25012436..25055224hg19UCSC Ensembl
Outerchr22:25005009..25055397hg19UCSC Ensembl
Innerchr22:23342436..23385224hg18UCSC Ensembl
Outerchr22:23335009..23385397hg18UCSC Ensembl
Innerchr22:23336990..23379778hg17UCSC Ensembl
Outerchr22:23329563..23379951hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3850389
hg1950389
hg1850389
hg1750389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9884
Supporting Variants
SamplesNA18972
Known GenesBCRP3, GGT1, POM121L10P
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)nssv27874
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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