A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv830809



Internal ID16107992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131632788..131805277hg38UCSC Ensembl
Outerchr6:131953928..132126417hg19UCSC Ensembl
Outerchr6:131995621..132168110hg18UCSC Ensembl
Outerchr6:131995621..132168110hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38172490
hg19172490
hg18172490
hg17172490
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88n68
Supporting Variantsnssv1445638
Samples
Known GenesCTAGE9, ENPP3, OR2A4
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)nsv830809
Frequency
Sample Size95
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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