A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28607



Internal ID15497053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:9089629..9093913hg38UCSC Ensembl
Outerchr20:9088667..9094453hg38UCSC Ensembl
Innerchr20:9070276..9074560hg19UCSC Ensembl
Outerchr20:9069314..9075100hg19UCSC Ensembl
Innerchr20:9018276..9022560hg18UCSC Ensembl
Outerchr20:9017314..9023100hg18UCSC Ensembl
Innerchr20:9018276..9022560hg17UCSC 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 StatusS
Merged Variantsnsv9783
Supporting Variants
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)nssv28607
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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