A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834069



Internal ID16111252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:54869460..55024544hg38UCSC Ensembl
Outerchr2:55096597..55251680hg19UCSC Ensembl
Outerchr2:54950101..55105184hg18UCSC Ensembl
Outerchr2:55008248..55163331hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38155085
hg19155084
hg18155084
hg17155084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1441915, nssv1441916
Samples
Known GenesEML6, RTN4
MethodBAC aCGH
AnalysisExperimental SDs (SDautosome) were calculated for each experiment on the basis of the log2 ratios of the 24,392 reliable clones minus the clones removed because of low signal-to-noise ratio (SNR) or high SD of replicate clone measures (SDclone). Thresholds for determining CNV clones were set at a multiple of the SDautosome value. For each experiment, clones were annotated as uninformative if they were filtered via SNR or SDclone, as a CNV loss if the log2 ratio was less than the negative threshold, as unchanged if the log2 ratio was between the negative and positive thresholds, and as a CNV gain if the log2 ratio was above the positive threshold.
PlatformGPL2616
Comments
ReferenceWong_et_al_2007
Pubmed ID17160897
Accession Number(s)nsv834069
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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