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Chunk #14 — Results

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CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.
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of the exons of the respective genes, the only exception being a 100 kb deletion affecting NRXN1 exons 7-9 (DGV Variation_2383). This variant affects a different region from the variants observed here; in addition, it was found only in one out of 540 chromosomes and is therefore also not likely to represent a common population polymorphism. Overall, the size and position of the variants identified here, both in NRXN1 and COL8A1, do not show any overlap with common population polymorphism.