Structural Variations and Diseases
Genomics variations are an important cause of human genetic diseases, and about 80% of rare diseases are due to genetic factors. Genomics variations can be divided into single nucleotide variations (SNVs), small insertions or deletions (InDels<=50 bp) and structure variations (SVs>50 bp) by size.
The SVs cover a range of genetic alterations, including copy number variations(CNVs), duplications, translocations, insertions, deletions, tandem repeat expansions and inversions. Each human genome has approximately 20,000 SVs that compose more than half of genomics variations. To a greater extent than SNPs, , SVs have been shown to be responsible for human evolution, genetic diversity between individuals and a rapidly increasing number of diseases or susceptibility to diseases.