A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv834163



Internal ID16458032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:25215681..25409132hg38UCSC Ensembl
Outerchr22:25611648..25805099hg19UCSC Ensembl
Outerchr22:23941648..24135099hg18UCSC Ensembl
Outerchr22:23936202..24129653hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38193452
hg19193452
hg18193452
hg17193452
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1455913, nssv1455914
Samples
Known GenesCRYBB2, IGLL3P, LRP5L
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)nsv834163
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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