A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11513



Internal ID15492501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:113430754..113437413hg38UCSC Ensembl
Outerchr2:113430283..113438139hg38UCSC Ensembl
Innerchr2:114188331..114194990hg19UCSC Ensembl
Outerchr2:114187860..114195716hg19UCSC Ensembl
Innerchr2:113904801..113911460hg18UCSC Ensembl
Outerchr2:113904330..113912186hg18UCSC Ensembl
Innerchr2:113904561..113911220hg17UCSC Ensembl
Outerchr2:113904090..113911946hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg387857
hg197857
hg187857
hg177857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10130
Supporting Variants
SamplesNA18972
Known GenesCBWD2
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)nssv11513
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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