A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832123



Internal ID9422974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:36561322..36735893hg38UCSC Ensembl
Outerchr11:36582872..36757443hg19UCSC Ensembl
Outerchr11:36539448..36714019hg18UCSC Ensembl
Outerchr11:36539448..36714019hg17UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38174572
hg19174572
hg18174572
hg17174572
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449122, nssv1449121
Samples
Known GenesC11orf74, RAG1, RAG2
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)nsv832123
Frequency
Sample Size95
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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