A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830211



Internal ID16107394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:14474566..14675667hg38UCSC Ensembl
Outerchr5:14474675..14675776hg19UCSC Ensembl
Outerchr5:14527675..14728776hg18UCSC Ensembl
Outerchr5:14527675..14728776hg17UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38201102
hg19201102
hg18201102
hg17201102
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1444237
Samples
Known GenesFAM105A, FAM105B, TRIO
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)nsv830211
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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