Table 1.
Copy number variations detected and their descriptions. (The bolded CNVs indicate high frequencies.)
| CNVs Type | Code | Chromosome Location | Start-End Position | Size (Mb) | Number of RefSeq Genes | Included in DGV, ISCA, DEC | Disease-Related Gene in OMIM | Phenotype |
|---|---|---|---|---|---|---|---|---|
| Deletion | R1701 | 7q31.31 | 120420001-1205-80000 | 0.16 | 1 | no | TSPAN12 | primary 4 years; infertility no symptoms |
| R1702 | 8p23.3-p23.2 | 160001-3880000 | 3.72 | 10 | yes | CLN8; ARHGEF10 | primary 4 years; infertility no symptoms | |
| R1703 | 16pl3.2-pl3.11 | 14720001-15300000 | 1.04 | 20 | yes | ND1; MYH11; ABCC6 | primary 5 years; infertility no symptoms | |
| R1704 | Xq21.33 | 93900001-95140000 | 1.24 | 0 | yes | primary infertility 5 years; no symptoms | ||
| R1705 | Xp22.31 | 6420001-8160000 | 1.68 | 6 | yes | STS | primary 6 years; infertility no symptoms | |
| Duplication | R1707 | 3q27.3-q28 | 187560001-188880000 | 1.32 | 2 | no | LPP | primary 5 years; infertility no symptoms |
| R1708 | 4q34.3 | 178120001-179840000 | 1.72 | 4 | no | AGA | secondary 1 year; no infertility symptoms | |
| R1709 | 5q21.3-q22.1 | 108900001-110020000 | 1.12 | 3 | no | primary infertility 4 years; no symptoms | ||
| R1710 | 6ql6.3 | 102480001-103860000 | 1.36 | 1 | yes | (most of) GRIK2 | secondary infertility 5 years; no symptoms | |
| R1711 | 7q21.13 | 88920001-90440000 | 1.20 | 7 | yes | CLDN12; GTPBP10 | primary 1 year; no infertility symptoms | |
| R1712 | 9q22.32-q22.33 | 98480001-99560000 | 1.08 | 8 | no | HSD17B3 | secondary 1 year; no infertility symptoms | |
| R1713 | 11q24.2 | 124580001-126980000 | 2.40 | 36 | no | ROBO3; FOXRED1; HEPACAM; HYLS1; TIRAP; KIRREL3 | primary infertility 3 years; no symptoms | |
| R1714 | 12pl3.33 | 640001-1720000 | 1.08 | 7 | no | WNK1 | primary 3 years; infertility no symptoms | |
| R1715 | 15qll.2 | 20840001-22780000 | 1.74 | 5 | yes | NBEAP1 | primary 1 year; no infertility symptoms | |
| R1716 | 15qll.2 | 20840001-22780000 | 1.74 | 5 | yes | NBEAP1 | primary infertility 5 years; no symptoms | |
| R1717 | 16pl3.11-pl2.3 | 15580001-18620000 | 2.12 | 15 | yes | NDE1; MYH11; ABCC6; XYLT1 | secondary infertility 1 year; no symptoms | |
| R1718 | 17pl2 | 14610001-15440000 | 1.28 | 6 | yes | PMP22 | secondary 9 years; no infertility symptoms | |
| R1719 | 18pll.21 | 13880001-14040000 | 0.16 | 1 | yes | MC2R | secondary 1 year; no infertility symptoms | |
| R1720 | 18pll.21 | 18620001-21820000 | 2.20 | 55 | yes | RTN4R; SERPIND1; PIBB; SCARF2; COMPT; PRODH | secondary infertility 5 years; no symptoms | |
| R1721 | 22qll.21 | 18960001-211000000 | 1.68 | 37 | yes | RTN4R; TBX1; GP1BB; SCARF2; COMT | primary infertility 1 year; no symptoms | |
| R1722 | 22qll.21 | 18920001-21420000 | 2.04 | 47 | yes | RTN4R; TBX1; SERPIND1; GP1BB; SCARF2;COMT; PRODH; SNAP29 | primary infertility 1 year; no symptoms | |
| R1723 | Xql2-ql3.1 | 67060001-68060000 | 1.00 | 4 | no | OPHN1 | primary infertility 5 years; no symptoms | |
| R1724 | Xql3.3 | 74180001-75380000 | 1.20 | 4 | no | ABCB7; ZDHHC15 | secondary infertility 1 year; one spontaneous abortion | |
| R1725 | Xp21.1 | 33040001-34720000 | 1.68 | 3 | yes | DMD | primary infertility 1 year; no symptoms | |
| R1726 | Xq21.1-q21.2 | 83580001-84780000 | 1.20 | 5 | no | POF1B | secondary infertility 1 one year; spontaneous two miscarriages; abortion | |
| R1727 | Xp22.31 | 6420001-8160000 | 1.68 | 6 | yes | STS | secondary infertility 8 years; no symptoms | |
| R1728 | Xp22.31 | 6420001-8160000 | 1.76 | 6 | yes | STS | secondary infertility 4 years; no symptoms | |
| R1729 | Xp22.21 | 6420001-8160000 | 1.72 | 5 | yes | STS | secondary infertility 3 years; no symptoms | |
| R1730 | Xp22.31 | 6420001-8160000 | 1.68 | 6 | yes | STS | secondary infertility 1 one year; spontaneous one miscarriage; abortion |
RefSeq genes: Reference Sequence genes; DGV: Database of Genomic Variants; ISCA: International Standards of Cytogenomic Arrays; DEC: DECIPHER; OMIM: Online Mendelian Inheritance in Man.