A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834206



Internal ID16111389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:40696722..40838881hg38UCSC Ensembl
Outerchr22:41092726..41234885hg19UCSC Ensembl
Outerchr22:39422672..39564831hg18UCSC Ensembl
Outerchr22:39417226..39559385hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38142160
hg19142160
hg18142160
hg17142160
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1456149
Samples
Known GenesMIR4766, SLC25A17, ST13
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)nsv834206
Frequency
Sample Size95
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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