Case no. | CNV | LOH | UPD |
---|---|---|---|
Cases with monoallelic deletion | |||
1. | arr 13q14.2q14.3(48,796,715-51,126,898)x1 (2,33 Mb) | n.t. | n.t. |
2. | arr 11q13.4-q23.3(70,503,170-116,961,197)x1 (46,46 Mb) | 11q14q22.3(81,735,918-104,024,380) (22,29 Mb) | No changes |
arr 13q13.3q21.33(39,377,596-71,248,873)x1 (31,87 Mb) | 13q13.2 q22.1(33,900,810-74,999,739) (41,09 Mb) | ||
3. | arr 13q14.2q14.3(48,229,933-51,827,408)x1 (3,60 Mb) | No changes | No changes |
arr 19q13.41(52,273,095-52,540,512)x3 (267,42 Kb) | |||
4. | arr 13q14.2q14.3 (49,643,767-52,415,185)x1 (2,77 Mb) | No changes | No changes |
5. | arr 4p15.2(25,475,860-26,940,881)x1 (1,47 Mb) | 7q35q36.3(147,741,217-157,731,561)x2 (9,99 Mb) | |
arr 11q14.3(89,656,697-91,983,518)x1 (2,33 Mb) | |||
arr 11q21-q24.3(94,371,784-128,262,880)x1 (33,89 Mb) | 11q22.1q24.3(99,501,357-129,280,824) (29,78 Mb) | ||
arr 13q14.2q14.3(50,561,374-50,909,490)x1 (348,12Kb) | |||
arr 17q21.31(44,204,228-44,418,272)x1 (214,04Kb) | |||
arr Xp22.31(6,493,087-8,034,106)x3 (1,54 Mb) | |||
arr Xq28(155,169,566-155,234,551)x3 (64,98 Mb) | |||
6. | arr 13q14.2q14.3(50,547,426-52,293,661)x1 (1.75 Mb) | No changes | No changes |
7. | arr 13q14.11q14.3(44,820,708-51,472,821)x1 (6.65 Mb) | 13q14.11q14.3(44,820,708-51,472,821)x1 (6.65 Mb) | No changes |
8. | arr 11q22.1-q23.3(98,280,345-115,237,704)x1 (16,96 Mb) | 11q22.1q23.3(97,723,221-115,807,318) (18,08 Mb) | No changes |
arr 13q14.2q14.3(48,875,709-52,722,490)x1 (3,85 Mb) | |||
9. | arr 2p25.3-p11.2(28,080,-84,775,088)x3 (84,75 Mb) | No changes | |
arr 11q21-q23.3(93,076,720-116,285,664)x1 (23.21 Mb) | 11q21q23.3(92,940,850-119,863,407) (26,92 Mb) | ||
arr 13q14.2q14.3(48,476,853-51,937,417)x1 (3,46 Mb) | |||
arr 17p13.3(10,152-1,130,849)x1 (1,12 Mb) | |||
10. | arr 13q14.2q14.3(50,532,206-51,502,524)x1 (970,32 Kb) | n.t. | n.t. |
11. | arr 8q21.3-q24.3(89,582,111-143,980,245)x3 (54,4 Mb) | No changes | No changes |
arr 13q14.2q14.3(50,506,929-51,502,525)x1 (995,60Kb) | |||
12. | arr 13q14.12q21.31(45,230,434-65,085,253)x1 (19,85 Mb) | 13q14.11q21.31(41,189,113-64,888,985) (23,70 Mb) | 7q21.11q22.1(86,118,243-99,637,271) (13,52 Mb) |
arr 16q23.2 (79,630,721-79,634,651)x3 (3,93Kb) | |||
13. | arr 1q21.3-q22(154,947,320-155,300,504)x3 (353,18Kb) | No changes | |
arr 13q13.3q21.33(36,430,114-71,248,873)x1 (34,82 Mb) | 13q13.3q21.33(36,430,114-71,248,873) (34,82 Mb) | ||
14. | arr 11q14.1-q23.3(77,433,358-119,173,987)x1 (41,74 Mb) | 11q13.1q23.3(64,336,971-115,680,986) (51,34 Mb) | No changes |
arr 13q14.2q14.3(50,648,212-51,296,645)x1 (648.43Kb) | |||
15. | arr 13q13.3q21.2 (37,178,772-60,025,895)x1 (22,85 Mb) | n.t. | n.t |
16. | arr 13q14.11(41,500,387-42,681,278)x1 (1,18 Mb) | No changes | 3p26.1p24.3 (6,131,168-18,306,025) (12,17 Mb) |
arr 13q14.13q14.3(47,067,473-52,293,661)x1 (5,23 Mb) | |||
17. | arr 8q24.23-q24.3(139,637,331-146,147,478)x3 (6,51 Mb) | n.t. | n.t |
arr 9p24.1(5,073,751-5,093,784)x3 (20,03Kb) | |||
arr 11q14.1-q25(84,360,979-134,772,193)x1 (50,41 Mb) | |||
arr 13q14.2q14.3(49,975,238-51,581,258)x1 (1,61 Mb) | |||
arr Xq27.2(140,354,604-140,762,836)x0 (408,23Kb) | |||
18. | arr 6q15-q22.31(92,567,028-122,238,549)x1 (29,67 Mb) | n.t. | n.t. |
arr 13q14.2q14.3 (50,575,469-51,213,898)x1 (638,43Kb) | |||
19. | arr 3q23(140,617,291-142,215,033)x1 (1,6 Mb) | No changes | No changes |
arr 10q25.1(110,247,081-111,224,354)x3 (977,27Kb) | |||
arr 13q14.2q14.3(49,667,023-51,766,748)x1 (2,10 Mb) | |||
20. | arr 13q14.2q14.3(48,852,953-52,024,641)x1 (3,17 Mb) | n.t. | n.t. |
arr 19q13.41(53,209,131-53,472,835)x3 (263,7Kb) | |||
21. | arr 2p16.1-p15(58,413,294-61,643,329)x3 (3,23 Mb) | No changes | No changes |
arr 13q14.2q14.3(49,466,784-51,789,968)x1 (2,32 Mb) | |||
Cases with biallelic deletion | |||
22. | arr 3p12.3-p11.1(77,467,782-90,191,784)x3 (12,72 Mb) | n.t. | n.t. |
arr 13q14.2q14.3(48,841,955-50,976,908)x0 (2,13 Mb) | |||
arr 13q14.13q14.3(46,934,009-52,663,754)x0 (5,73 Mb) | |||
arr 15q14-q15.1(40,067,479-42,229,801)x1 (2,16 Mb) | |||
arr 17p13.3-p13.1(111,956-9,547,885)x1 (9,44 Mb) | |||
24. | arr 6p25.3(209,906-1,318,308)x3 (1,11 Mb) | n.t. | n.t |
arr 6p21.1-q13(45,388,754-72,422,581)x1 (27,03 Mb) | |||
arr 12q11-q24.33(37,896,066-133,773,393)x3 (95,88 Mb) | |||
arr 13q14.2q14.3(50,561,374-51,441,414)x0 (880,04Kb) | |||
25.a | arr 1q42.12q42.3(225,534,669-234,720,224)x1 (9.19 Mb) | ||
arr 1q44(247,898,601-249,228,445)x3 (1.33 Mb) | |||
arr 2p16.1p14(59,068,992-66,342,421)x3 (7.27 Mb) | 2p16.1p14(59,068,992-66,342,421)x3 (7.27 Mb) | 2p25.3p14(852,240-65,905,900) (65.05 Mb) | |
arr 5q21.3 (108,305,821-108,763,974)x1 (458.5Kb) | |||
arr 8p23.3p11.21(1,775,777-42,326,846)x1 (40.55 Mb) | 8p23.3p11.1(591,022-43,149,647) (42.56 Mb) | ||
arr 13q14.2q14.3(50,597,418-51,454,330)x0 (856.91Kb) | 13q14.2q14.3(50,597,418-51,454,330)x0 (856.91Kb) | 13q12.11q34(19,813,548-114,888,975) (95.08 Mb) | |
arr 17p13.3p13.1(10,152-7,654,148)x1 (7.64 Mb) | 17p13.3p13.1 (1,135,130-8,800,337) (7.67 Mb) | ||
arr 17p12p11.2(11,403,886-21,438,821)x1 (10.03 Mb) | 17p12p11.2 (11,724,886-21,047,102) (9.32 Mb) | ||
arr 19q13.43(56,465,808-59,057,705)x3 (2.59 Mb) | |||
arr Xq28(154,844,440-155,234,551)x2 (390.11Kb) | |||
26. | arr 7q34(142,034,557-142,424,354)x3 (389,8Kb) | No changes | No changes |
arr 13q14.2q14.3(50,575,469-51,472,821)x0 (897,35Kb) | |||
27. | arr 13q14.2q14.3(50,575,469-51,441,414)x1 (865,95Kb) | ||
arr 17q21.31(44,204,228-44,342,442)x0 (138,21Kb) | 17q21.31(44,204,228-44,342,442)x0 (138,21Kb) | 17q21.2q21.33 (38,973,99-48,047,566) (9,07 Mb) | |
28. | arr 13q14.2q14.3(50,484,540-51,524,424)x1 (1,04 Mb) | No changes | No changes |
arr 13q14.2q14.3(50,241,416-51,524,424)x1 (1,28 Mb) | |||
29. | 7q32.2q36.1(129,639,751-148,168,183) (18,53 Mb) | ||
arr 12p13.33-q24.33(207,344-133,773,393)x3 (133,57 Mb) | 12q23.1q24.13(100,260,227-113,728,620) (13,49 Mb) | ||
arr 13q14.2q14.3(50,575,469-51,523,591)x1 (948,12Kb) | 13q14.2q14.3(50,575,469-51,523,591)x1 (948,12Kb) | 13q14.11q21.32(40,405,019-66,081,272) (25,68 Mb) | |
30. | arr13q14.2q14.3(48,801,028-51,680,357)x0 (2,88 Mb) | n.t. | n.t. |
31. | arr 13q14.2q14.3(50,305,714-51,469,354)x1 (1,16 Mb) | n.t. | n.t |
arr 13q12.3q21.31(31,346,665-64,680,548)x1 (33,33 Mb) | |||
32. | arr 7q33-q34(134,286,767-143,042,219)x1 (8,76 Mb) | n.t. | n.t. |
arr 12p13.3-q24.33(207,344-133,773,393)x3 (133,57 Mb) | |||
arr 13q14.2q14.3(50,408,714-51,572,737)x0 (1,16 Mb) | |||
arr 13q13.3q14.3(39,596,989-51,624,965)x1 (12,03 Mb) | |||
33. | arr 2q37.3(238,903,162-242,335,337)x1 (3,43 Mb) | No changes | No changes |
arr 13q14.2q14.3(50,659,348-51,164,513)x0 (505,17Kb) | |||
arr 13q14.2q14.3(50,337,728-51,897,968)x0 (1,56 Mb) | |||
34. | arr 13q14.2q14.3(50,484,540-51,572,737)x1 (1.09 Mb) | No changes | No changes |
35. | arr 1q23.3(161,493,499-161,619,000)x3 (125,5Kb) | No changes | No changes |
arr 12p13.33-q24.33(151,196-133,773,393)x3 (133,62 Mb) | |||
arr 13q14.2q14.3(50,575,469-51,502,524)x1 (927,06Kb) | |||
arr 13q14.2q14.3(48,754,460-52,536,626)x1 (3,78 Mb) | |||
36. | arr 13q14.2q14.3(49,579,386-51,404,793)x1 (1,83 Mb) | n.t. | n.t. |
arr 17p13.3-p11.2(10,152,21-21,088,538)x1 (21,08 Mb) | |||
arr 18p11.32-p11.21(2,857,465-14,096,343)x1 (11,24 Mb) | |||
37. | arr 13q14.2q14.3(50,532,206-51,502,524)x1 (970,32Kb) | n.t. | n.t. |
38. | arr 13q14.2q14.3(50,575,469-51,360,705)x0 (785,24Kb) | No changes | No changes |
39. | arr 1q43q44(240,340,273-249,228,445)x3 (8.89 Mb) | No changes | |
arr 11q21q25(93,214,146-134,931,948)x1 (41.72 Mb) | 11q21q25(92,940,850-133,599,968) (40.66 Mb) | ||
arr 12p13.31p12.3(8,514,368-15,095,031)x1 (6.58 Mb) | 12p13.32p12.3(3,782,056-18,007,840) (14.23 Mb) | ||
arr 13q14.11q31.1(41,246,428-80,220,989)x1 (38.97 Mb) | 13q14.11q22.1(41,189,113-73,649,362) (32.46 Mb) | ||
40. | arr 11q14.1-q24.2(83,780,266-127,200,577)x1 (43,42 Mb) | n.t. | n.t. |
arr 13q14.2q14.3(49,667,023-51,641,879)x1 (1,97 Mb) | |||
arr 13q14.2q14.3(48,783,721-52,722,490)x1 (3,94 Mb) |