Table 1.
Summary of the significant AOD-correlated CNVs.
| CNV | Chr | Start | End | Beta (CNV-AOD) | P.adj (CNV-AOD) | Total allele count (AC) | Deletion AC | Duplication AC | Allele number (AN) | Allele frequency (AF) | CNV carrier frequency (ROSMAP) | Location annotation |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DEL33439 | chr11 | 28,670,388 | 28,698,217 | 1.27E+01 | 1.58E-02 | 2 | 2 | - | 2,254 | 0.0887% | 0.18% | Intron (NM_022763, intron 3 of 25) |
| DEL12587 | chr3 | 103,265,515 | 103,266,967 | 8.48E+00 | 1.47E-02 | 5 | 5 | - | 2,254 | 0.2218% | 0.44% | Promoter-TSS (NM_001042454) |
| mCNV32854 | chr10 | 125,318,955 | 125,323,070 | −8.89E+00 | 1.58E-02 | 4 | 1 | 3 | 2,254 | 0.1775% | 0.35% | Intergenic |
| DEL29312 | chr9 | 24,099,045 | 24,104,914 | 7.56E+00 | 1.58E-02 | 6 | 6 | - | 2,254 | 0.2662% | 0.53% | Intron (NM_001130987, intron 52 of 55) |
| mCNV14192 | chr3 | 171,925,368 | 171,927,349 | −1.05E+01 | 3.25E-03 | 4 | 1 | 3 | 2,254 | 0.1775% | 0.35% | Intergenic |
| DUP42180 | chr16 | 31,476,591 | 31,489,411 | −8.99E+00 | 1.58E-02 | 4 | - | 4 | 2,254 | 0.1775% | 0.35% | Intergenic |
| DEL5006 | chr2 | 17,194,382 | 17,196,437 | 1.00E+01 | 2.19E-02 | 3 | 3 | - | 2,254 | 0.1331% | 0.27% | Intergenic |
| mCNV6126 | chr2 | 71,904,772 | 71,907,076 | −3.77E+00 | 7.97E-03 | 28 | 1 | 27 | 2,254 | 1.2422% | 2.48% | Intergenic |
| DEL29087 | chr9 | 11,470,585 | 11,635,259 | 1.27E+01 | 1.58E-02 | 2 | 2 | - | 2,254 | 0.0887% | 0.18% | Intergenic |
| DEL15967 | chr4 | 64,478,325 | 64,483,686 | 7.97E+00 | 1.58E-02 | 5 | 5 | - | 2,254 | 0.2218% | 0.44% | Intergenic |
The genomic coordinates are based on HG19 reference genome. Beta, estimated effect size; P.adj, adjusted p-value calculated based on linear regression by Matrix eQTL and adjusted by FDR; AC, the chromosome-level allele count; AN, total chromosome number; AF, the chromosome-level allele frequency; CNV carrier frequency, the frequency of DEL/DUP carriers in the ROSMAP cohort.