A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv833899



Internal ID16111082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:3709295..3878350hg38UCSC Ensembl
Outerchr20:3689942..3858997hg19UCSC Ensembl
Outerchr20:3637942..3806997hg18UCSC Ensembl
Outerchr20:3637942..3806997hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38169056
hg19169056
hg18169056
hg17169056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1454903, nssv1454904
Samples
Known GenesAP5S1, C20orf27, CDC25B, CENPB, HSPA12B, MAVS, SPEF1
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)nsv833899
Frequency
Sample Size95
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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