A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27163



Internal ID15494308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86717037..86797772hg38UCSC Ensembl
Outerchr2:86713865..86857237hg38UCSC Ensembl
Innerchr2:86944160..87024895hg19UCSC Ensembl
Outerchr2:86940988..87084360hg19UCSC Ensembl
Innerchr2:86797671..86878406hg18UCSC Ensembl
Outerchr2:86794499..86937871hg18UCSC Ensembl
Innerchr2:86855818..86936553hg17UCSC Ensembl
Outerchr2:86852646..86996018hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38143373
hg19143373
hg18143373
hg17143373
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10063
Supporting Variants
SamplesNA19007
Known GenesCD8A, CD8B, RMND5A, RNF103-CHMP3
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)nssv27163
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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