A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25191



Internal ID15482703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23316585..23326804hg38UCSC Ensembl
Outerchr22:23313770..23414655hg38UCSC Ensembl
Innerchr22:23658772..23668991hg19UCSC Ensembl
Outerchr22:23655957..23756842hg19UCSC Ensembl
Innerchr22:21988772..21998991hg18UCSC Ensembl
Outerchr22:21985957..22086842hg18UCSC Ensembl
Innerchr22:21983326..21993545hg17UCSC Ensembl
Outerchr22:21980511..22081396hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38100886
hg19100886
hg18100886
hg17100886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9876
Supporting Variants
SamplesNA10863
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)nssv25191
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer