A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21887



Internal ID15836114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:27747650..27860096hg38UCSC Ensembl
Outerchr14:27746605..27860614hg38UCSC Ensembl
Innerchr14:28216856..28329302hg19UCSC Ensembl
Outerchr14:28215811..28329820hg19UCSC Ensembl
Innerchr14:27286696..27399142hg18UCSC Ensembl
Outerchr14:27285651..27399660hg18UCSC Ensembl
Innerchr14:27286696..27399142hg17UCSC Ensembl
Outerchr14:27285651..27399660hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38114010
hg19114010
hg18114010
hg17114010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9128
Supporting Variants
SamplesNA18563
Known Genes
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)nssv21887
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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