Affymetrix CytoScan 750K data for validation of the BoBs/CNV-seq comparison study

BACs-on-Beads (BoBs) assay and Copy Number Variation Sequencing (CNV-Seq) are two frequently used methods in today’s prenatal diagnosis. Several researches studies were conducted to investigate the performance of each approach, but they were never compared side by side. This dataset is intended to be used as the 'gold standard dataset' for the validation of BoBs/CNV-seq test reasults on 10 amniotic fluid samples with pathogenic fetal CNVs. CNV analysis using Affymetrix 750K was performed on 10 samples to validate the results generated by BoBs assay and CNV-seq.