Table 8 Large CNVs in the Croatia dataset: CNVs longer than 500 Kb in Croatia Controls.
Chromosomal Region (Cytogenetic Coordinate) | Copy No. | Length (Kb) | No. SNPs | Start SNP | End SNP | Genes | Individual | Sex | Age |
|---|---|---|---|---|---|---|---|---|---|
chr2:836164-1827317 (2p25.3) | 3 | 991 | 202 | rs4533500 | rs11127313 | LOC391343, MYT1L, PXDN, SNTG2, TPO | Aut_26 | m | 28 |
chr3:186745-1313259 (3p26.3) | 3 | 1,127 | 339 | rs6442427 | rs1353825 | CHL1, CNTN6 | Aut_46 | f | 36 |
chr3:57010-1122201 (3p26.3) | 3 | 1,065 | 267 | rs1516321 | rs6797539 | CHL1, CNTN6 | Aut_99 | m | 14 |
chr4:188763338-190322725 (4q35.2) | 1 | 1,559 | 333 | rs13147499 | rs13106777 | FLJ25801, TRIML1, ZFP42 | Aut_37 | m | 27 |
chr4:190385789-190982886 (4q35.2) | 3 | 597 | 69 | rs10446846 | rs6844114 | TRIML1 (1080146 upstream); FRG1 (116082 downstream) | Aut_141 | m | 20 |
chr5:104486852-105008254 (5q21.2-21.3) | 3 | 521 | 58 | rs294152 | rs6872786 | NUDT12 (1560463 upstream); EFNA5 (1735996 downstream) | Aut_36 | f | 29 |
chr7:49000866-49879997 (7p12.3-12.2) | 3 | 879 | 165 | rs1004168 | rs6963083 | VWC2 | Aut_203 | f | 20 |
chr7:79347222-81014740 (7q21.11) | 1 | 1,668 | 336 | rs6949571 | rs2909580 | CD36, GNAI1, GNAT3, SEMA3C | Aut_65 | m | 8 |
chr8:4005541-4886423 (8p23.2) | 1 | 881 | 781 | rs7006672 | rs7815159 | CSMD1 | Aut_38 | f | 25 |
chr8:85925158-87860757 (8q21.2-21.3) | 1 | 1,936 | 257 | rs4740033 | rs11781187 | ATP6V0D2, C8orf59, CA1, CA13, CA2, CA3, CNGB3, CPNE3, E2F5, FAM82B, LRRCC1, PSKH2, RALYL, REXO1L1, SLC7A13, WWP1 | Aut_114 | f | 29 |
chr9:22934927-23536461 (9p21.3) | 3 | 602 | 136 | rs1463014 | rs7028484 | DMRTA1 (492455 upstream); ELAVL2 (143644 downstream) | Aut_54 | m | 27 |
chr12:33415349-34701470 (12p11.1) | 4 | 1,286 | 104 | rs1905414 | rs9706509 | ALG10, SYT10 | Aut_39 | m | 23 |
chr15:70783089-73316235 (15q24.1-24.2) | 3 | 2,533 | 382 | rs11072382 | rs1565496 | ADPGK, ARID3B, BBS4, C15orf17, C15orf39, CCDC33, CD276, CLK3, COX5A, CPLX3, CSK, CYP11A1, CYP1A1, CYP1A2, EDC3, GOLGA6, HCN4, ISLR, ISLR2, LMAN1L, LOC283677, LOC388135, LOXL1, MPI, NEO1, NPTN, PML, PPCDC, RPP25, SCAMP2, SCAMP5, SEMA7A, STOML1, STRA6, TBC1D21, UBL7, ULK3 | Aut_10 | m | 48 |
chr16:76525505-77164850 (16q23.1) | 3 | 639 | 235 | rs387138 | rs2346008 | CLEC3A, KIAA1576, WWOX | Aut_148 | m | 38 |
chr22:17690812-18613429 (22q11.21) | 3 | 923 | 248 | rs982520 | rs854971 | ARVCF, C22orf25, C22orf29, CDC45L, CLDN5, COMT, DGCR8, GNB1L, GP1BB, HIRA, HTF9C, LOC128977, MRPL40, RANBP1, RTN4R, SEPT5, TBX1, TXNRD2, UFD1L, ZDHHC8 | Aut_94 | m | 6 |
chr22:19102598-19665559 (22q11.21) | 3 | 563 | 97 | rs738089 | rs7292968 | AIFM3, CRKL, KLHL22, MED15, PI4KA, SCARF2, SERPIND1, SNAP29 | Aut_94 | m | 6 |
chrX:6468166-8112188 (Xp22.31) | 3 | 1,644 | 190 | rs6654819 | rs2278935 | HDHD1A, PNPLA4, STS, VCX, VCX2 | Aut_157 | f | 41 |
chrX:93063380-93732495 (Xq21.32-21.33) | 0 | 669 | 88 | rs6615574 | rs5950049 | FAM133A (209463 upstream); DIAPH2 (2093870 downstream) | Aut_155 | m | 38 |