A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1449213



Internal ID16099817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:58084559..58238717hg38UCSC Ensembl
Outerchr11:57852031..58006189hg19UCSC Ensembl
Outerchr11:57608607..57762765hg18UCSC Ensembl
Outerchr11:57608607..57762765hg17UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38154159
hg19154159
hg18154159
hg17154159
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv832166
Supporting Variants
Samples
Known GenesOR10Q1, OR1S1, OR1S2, OR9I1, OR9Q1, OR9Q2
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)nssv1449213
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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