SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
Vogt, Julia × Bengesser, Kathrin Claes, Kathleen Bm Wimmer, Katharina Mautner, Victor-Felix van Minkelen, Rick Legius, Eric Brems, Hilde Upadhyaya, Meena Högel, Josef Lazaro, Conxi Rosenbaum, Thorsten Bammert, Simone Messiaen, Ludwine Cooper, David N Kehrer-Sawatzki, Hildegard #
Genome biology vol:15 issue:6 pages:R80
Genomic disorders are caused by copy number changes that may exhibit recurrent breakpoints processed by nonallelic homologous recombination. However, region-specific disease-associated copy number changes have also been observed which exhibit non-recurrent breakpoints. The mechanisms underlying these non-recurrent copy number changes have not yet been fully elucidated.