A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833965



Internal ID16111148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:36085697..36284604hg38UCSC Ensembl
Outerchr20:34673619..34872526hg19UCSC Ensembl
Outerchr20:34137033..34335940hg18UCSC Ensembl
Outerchr20:34137033..34335940hg17UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38198908
hg19198908
hg18198908
hg17198908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455067, nssv1455068
Samples
Known GenesAAR2, EPB41L1
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)nsv833965
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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