A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28102



Internal ID15838959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:80577046..80577728hg38UCSC Ensembl
Outerchr2:80575863..80578458hg38UCSC Ensembl
Innerchr2:80804171..80804853hg19UCSC Ensembl
Outerchr2:80802988..80805583hg19UCSC Ensembl
Innerchr2:80657682..80658364hg18UCSC Ensembl
Outerchr2:80656499..80659094hg18UCSC Ensembl
Innerchr2:80715829..80716511hg17UCSC Ensembl
Outerchr2:80714646..80717241hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg382596
hg192596
hg182596
hg172596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10056
Supporting Variants
SamplesNA18942
Known GenesCTNNA2
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)nssv28102
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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