GSD-CNV-S536
ERS3697906
SRA accession
SHIP-2_sample536
description
Homo Sapien
http://purl.obolibrary.org/obo/NCBITaxon_9606
organism
Homo Sapien
http://purl.obolibrary.org/obo/NCBITaxon_9606
scientific name
Male
http://purl.obolibrary.org/obo/PATO_0000384
sex
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.
submission description
GSB-1431
submission identifier
Copy number variation (CNV) analysis in Gallstones disease (GSD)
submission title