A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9783



Internal ID15501009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9088667..9094453hg38UCSC Ensembl
Outerchr20:9069314..9075100hg19UCSC Ensembl
Outerchr20:9017314..9023100hg18UCSC Ensembl
Outerchr20:9017314..9023100hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg385787
hg195787
hg185787
hg175787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28607
SamplesNA19221
Known GenesPLCB4
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)nsv9783
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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