A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9128



Internal ID15847040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:27746605..27860614hg38UCSC Ensembl
Outerchr14:28215811..28329820hg19UCSC Ensembl
Outerchr14:27285651..27399660hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv21887
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)nsv9128
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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