A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28761



Internal ID15497156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24618748..24653882hg38UCSC Ensembl
Outerchr22:24616469..24654643hg38UCSC Ensembl
Innerchr22:25014715..25049849hg19UCSC Ensembl
Outerchr22:25012436..25050610hg19UCSC Ensembl
Innerchr22:23344715..23379849hg18UCSC Ensembl
Outerchr22:23342436..23380610hg18UCSC Ensembl
Innerchr22:23339269..23374403hg17UCSC Ensembl
Outerchr22:23336990..23375164hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3838175
hg1938175
hg1838175
hg1738175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9884
Supporting Variants
SamplesNA19221
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)nssv28761
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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