See
Genome Information for Homo sapiens
We examined a sample of 4,778 individuals (1,929 GSD cases and 2,849 controls) including two European cohorts from Germany (n = 3,702) and one admixed Latin American cohort from Chile (n = 1,076). We detected 4,336 large and rare CNVs events (size > 100 kb, frequency < 1%). CNV burden analysis revealed a significant association of CNVs with GSD, with the strongest effect observed in men with CNVs overlapping lipid metabolism genes.
Accession | PRJEB33136 |
Data Type | Variation |
Scope | Monoisolate |
Organism | Homo sapiens[Taxonomy ID: 9606] Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo; Homo sapiens |
Submission | Registration date: 25-Jun-2019 European Bioinformatics Institute |
Project Data:
Resource Name | Number of Links |
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Variation (dbVar) | 2182 |