Figure 1
The figure shows the distribution map of CNVs on different chromosomes. The x-axis represents the number of chromosome and the y-axis represents the count of different CNVs in the 324 samples. Different color depth means different CNVs on the same chromosome. Copy number variations of Xq22.31, 22qll.21 and 15qll.2 show high frequencies in this study.
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 |
[i] RefSeq genes: Reference Sequence genes; DGV: Database of Genomic Variants; ISCA: International Standards of Cytogenomic Arrays; DEC: DECIPHER; OMIM: Online Mendelian Inheritance in Man.