TY - CHAP M1 - Book, Section TI - Clinical Implications of Copy Number Variation in the Human Genome A1 - Sook Ha, Jung A1 - Lee, Charles A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. Y1 - 2014 N1 - T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - During the past 9 years, copy number variation (CNV) has emerged as a highly prevalent form of genomic variation. CNVs are smaller than the chromosomal aberrations observed microscopically by cytogeneticists, but larger than single-nucleotide polymorphisms (SNPs) and insertion or deletion (indel) mutations. Many CNVs are simply normal genetic variants that do not contribute to a clinically recognizable phenotype. Other CNVs predispose or are significantly associated to conditions of medical consequence. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102707245 ER -