The NIGMS Repository holds a collection of samples with many types of chromosomal abnormalities. Karyotypes of the samples in this collection have been characterized by the sample submitter, and independently verified by cytogeneticists at the Coriell Institute. Additionally, many chromosomal abnormality samples have been analyzed on the Affymetrix Genome-Wide Human SNP Array 6.0 platform.
Click below on the chromosome of interest to view the UCSC Genome Browser with a track showing NCBI RefSeq Gene predictions and a track showing NIGMS Repository samples bearing copy number variants (CNVs) on that chromosome. Users can modify the display and search terms directly within the UCSC Genome Browser, and select the desired display mode for "Coriell CNVs" under "Phenotype and Disease Associations".
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Data on the NIGMS Repository Chromosomal Abnormalities samples that have been genotyped on the Affymetrix Genome-Wide Human SNP Array 6.0 may be downloaded here.
Click each link below to see available samples and their karyotypes. On each karyotype page is a filter tool to display samples based on Chromosome # of the abnormality.
