Research Progress on Gene Copy Number Variations

Two types of gene structural variations are defined as microscopic variations and submicroscopic variations.The genomic structure of micro-level variations that can be seen under the microscope mainly refers to the chromosome aberrations,including euploid or aneuploid,deletions,insertions,inversions,translocations,fragile sites and other structural variations.Submicroscopic structural variations include deletions,insertions,duplications,rearrangements,inversions,translocations or copy number variations(CNV) in large DNA segments(1Kb-3Mb).These are collectively referred as CNV or CNP(copy number polymorphisms,CNP).Researches on CNV could establish the genetic testing hypothesis,detect the disease susceptible genes,and understand the phenotype variations better.Besides,CNV would provide the basis for determining how genomic diversity impacts the biological functions,the evolution and human diseases.Here,we review the CNV research history,molecular mechanisms,related research methods,and the research significance.