A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9784



Internal ID15501010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:9187548..9190983hg38UCSC Ensembl
Outerchr20:9168195..9171630hg19UCSC Ensembl
Outerchr20:9116195..9119630hg18UCSC Ensembl
Outerchr20:9116195..9119630hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg383436
hg193436
hg183436
hg173436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv25225
SamplesNA18563
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)nsv9784
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer