A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832167



Internal ID16456036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58145037..58181278hg38UCSC Ensembl
Outerchr11:57912509..57948750hg19UCSC Ensembl
Outerchr11:57669085..57705326hg18UCSC Ensembl
Outerchr11:57669085..57705326hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3836242
hg1936242
hg1836242
hg1736242
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449216, nssv1449214, nssv1449215
Samples
Known GenesOR9Q1
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)nsv832167
Frequency
Sample Size95
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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