A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829681



Internal ID16453550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:114414305..114591630hg38UCSC Ensembl
Outerchr3:114133152..114310477hg19UCSC Ensembl
Outerchr3:115615842..115793167hg18UCSC Ensembl
Outerchr3:115615842..115793167hg17UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38177326
hg19177326
hg18177326
hg17177326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv77n68
Supporting Variantsnssv1443017, nssv1443019
Samples
Known GenesZBTB20
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)nsv829681
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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