A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28762



Internal ID15497157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25207042..25246457hg38UCSC Ensembl
Outerchr22:25204810..25247101hg38UCSC Ensembl
Innerchr22:25603009..25642424hg19UCSC Ensembl
Outerchr22:25600777..25643068hg19UCSC Ensembl
Innerchr22:23933009..23972424hg18UCSC Ensembl
Outerchr22:23930777..23973068hg18UCSC Ensembl
Innerchr22:23927563..23966978hg17UCSC Ensembl
Outerchr22:23925331..23967622hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3842292
hg1942292
hg1842292
hg1742292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9888
Supporting Variants
SamplesNA19221
Known GenesCRYBB2, CRYBB3
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)nssv28762
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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