Chromosome Disorders study with SNP Genotypes (Array) data on dbGaP (697 participants)

phs000269 — Genotyping NIGMS Chromosomal Aberration and Inherited Disorder Samples

<p>As part of an effort to correlate molecular copy number variation determinations with state of the art karyotype    analyses, 716 samples derived from 697 individuals from the Chromosomal Aberrations and Inherited Disorders    collections of the NIGMS Human Genetic Cell Repository were genotyped and analyzed for CNV determination by the    Microarray Center at the Coriell Institute for Medical Research. Karyotyping is performed on all cell cultures    in the Repository with reported chromosome abnormalities. The samples chosen for genotyping in this study are intended    to represent a diverse set of copy number variants, but the selection was also weighted to over-sample commonly    manifested types of aberrations. When available, the ISCN description of the sample based on G-banding and    FISH analysis is included in the phenotypic data. Karyotypes for these cells can be viewed in the online Repository    catalog (<a href="http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8">http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8</a>).</p>