A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829808



Internal ID16453677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179856826..180036533hg38UCSC Ensembl
Outerchr3:179574614..179754321hg19UCSC Ensembl
Outerchr3:181057308..181237015hg18UCSC Ensembl
Outerchr3:181057316..181237023hg17UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38179708
hg19179708
hg18179708
hg17179708
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv78n68
Supporting Variantsnssv1443274, nssv1443272
Samples
Known GenesPEX5L
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)nsv829808
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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