A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv832446



Internal ID16456315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:66000083..66107704hg38UCSC Ensembl
Outerchr12:66393863..66501484hg19UCSC Ensembl
Outerchr12:64680130..64787751hg18UCSC Ensembl
Outerchr12:64680130..64787751hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38107622
hg19107622
hg18107622
hg17107622
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1449879, nssv1449878
Samples
Known GenesMIR6074
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)nsv832446
Frequency
Sample Size95
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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