RT Book, Section
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.
SR Print(0)
ID 1102707245
T1 Clinical Implications of Copy Number Variation in the Human Genome
T2 Clinical Genomics: Practical Applications in Adult Patient Care
YR 2014
FD 2014
PB McGraw-Hill Education
PP New York, NY
SN 9780071622448
LK accessmedicine.mhmedical.com/content.aspx?aid=1102707245
RD 2024/04/19
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.