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Copy number variation identified on chromosome 5p13.

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posted on 2014-08-11, 03:27 authored by Stéphane Jamain, Sven Cichon, Bruno Etain, Thomas W. Mühleisen, Alexander Georgi, Nora Zidane, Lucie Chevallier, Jasmine Deshommes, Aude Nicolas, Annabelle Henrion, Franziska Degenhardt, Manuel Mattheisen, Lutz Priebe, Flavie Mathieu, Jean-Pierre Kahn, Chantal Henry, Anne Boland, Diana Zelenika, Ivo Gut, Simon Heath, Mark Lathrop, Wolfgang Maier, Margot Albus, Marcella Rietschel, Thomas G. Schulze, Francis J. McMahon, John R. Kelsoe, Marian Hamshere, Nicholas Craddock, Markus M. Nöthen, Frank Bellivier, Marion Leboyer

(A) Fluorescence level of SNPs of the region for the deleted patient visualized using SnipPeep. Red dots represent fluorescence level of SNPs and green dots correspond to the SNP heterozygocity. (B) Chromosomal position of the deletion. Gene position and annotation (http://genome.ucsc.edu/) are symbolised by green arrows. Deletions reported in the Database of Genomic Variants (http://projects.tcag.ca/variation/) are represented with blue bars. No duplication has been reported in this region. A red bar represents the deletion identified in the patient with early-onset BD.

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