A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8764



Internal ID15499990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:2831869..2843176hg38UCSC Ensembl
Outerchr11:2853099..2864406hg19UCSC Ensembl
Outerchr11:2809675..2820982hg18UCSC Ensembl
Outerchr11:2809675..2820982hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3811308
hg1911308
hg1811308
hg1711308
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22122
SamplesNA18502
Known GenesKCNQ1
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)nsv8764
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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