[siteorigin_widget class=”WP_Widget_Media_Video”][/siteorigin_widget] CNV analysis based on NGS data: has the dream come true? The term Copy Number Variations (CNVs) is traditionally referring to intermediate-scale large deletions/duplications of 1 kb to 5 kb in size. However, in practice, when the analysis is based on data from Next Generation Sequencing (NGS), CNV is used every day more
How large can a mutation be? Genetic variations in the human genome can differ very much in size. Starting from the smallest mutations possible, the SNV (single nucleotide variation), up to the deletion of an entire chromosome, you can find mutations of every size in the middle! The vast majority of pathogenic mutations are SNVs
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