10.6084/m9.figshare.5127214.v1 Papenhausen P.R. Papenhausen P.R. Kelly C.A. Kelly C.A. Zvereff V. Zvereff V. Schwartz S. Schwartz S. Supplementary Material for: Four-Copy Number Intervals in SNP Microarray Analysis: Unique Patterns and Positions Karger Publishers 2014 Allele tracts Chromosome microarray Double duplication Segmental UPD Triplication 2014-11-15 00:00:00 Dataset https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Four-Copy_Number_Intervals_in_SNP_Microarray_Analysis_Unique_Patterns_and_Positions/5127214 Over the past several years, the utility of microarray technology in delineating copy number changes has become well established. In the past 4 years, we have used the SNP array to detect and analyze allele ratios in 150 cases with 4-copy intervals, confirmed by FISH, offering insight into the underlying mechanisms of formation. These cases may be divided into 5 allele patterns - the first 4 of which involve a single homologue - as detected by the genotyping aspects of the microarray: (1) triplications combining homozygous and heterozygous alleles, with a 3:1 ratio of heterozygotes; (2) triplications with allele patterns combining homozygous and heterozygous alleles, with heterozygote ratios of both 3:1 and 2:2; (3) triplications that have homozygous alleles combined with only 2:2 heterozygous alleles; (4) triplications that are completely homozygous; and (5) homozygous duplications on each homologue with no heterozygous alleles. The implications of copy number variants with diverse allelic segregations are presented in this study.