A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28205



Internal ID15493842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131176729..131362266hg38UCSC Ensembl
Outerchr2:131158153..131363048hg38UCSC Ensembl
Innerchr2:131934302..132119839hg19UCSC Ensembl
Outerchr2:131915726..132120621hg19UCSC Ensembl
Innerchr2:131650772..131836309hg18UCSC Ensembl
Outerchr2:131632196..131837091hg18UCSC Ensembl
Innerchr2:131768034..131953571hg17UCSC Ensembl
Outerchr2:131749458..131954353hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204896
hg19204896
hg18204896
hg17204896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10180
Supporting Variants
SamplesNA18980
Known GenesLOC440910, POTEE, WTH3DI
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)nssv28205
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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