A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27775



Internal ID15494939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23313770..23472929hg38UCSC Ensembl
Outerchr22:23310932..23473142hg38UCSC Ensembl
Innerchr22:23655957..23815116hg19UCSC Ensembl
Outerchr22:23653119..23815329hg19UCSC Ensembl
Innerchr22:21985957..22145116hg18UCSC Ensembl
Outerchr22:21983119..22145329hg18UCSC Ensembl
Innerchr22:21980511..22139670hg17UCSC Ensembl
Outerchr22:21977673..22139883hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38162211
hg19162211
hg18162211
hg17162211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9876
Supporting Variants
SamplesNA19132
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)nssv27775
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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