Table 4.
Pathogenic CNCs Involving Two or More DNA Segments
| Patient | Imbalance | Size (kb) | ISCN description | NCBI build | Classification |
|---|---|---|---|---|---|
| M099 | del/dup | 4,134/2,164 | 1p36.33p36.32(799622-4933181)x1/Xq28(152241308-154405159)x3 | hg18 | 2 |
| A011 | del/dup | 9,275/5,885 | 1q43q44(236147009-245422419)x1/9p24.3p24.1(204367-6089101)x3 | hg17 | 2 |
| M183 | del/dup | 1,496/1,718 | 2p25.3(29193-1525513)x1/4q13.2q13.3(69802468-71520579)x3 | hg18 | 3 |
| M127 | del/dup | 3,471/6,495 | 4p16.3p16.2(62447-3533180)x1/7p22.3p22.1(149268-6644183)x3 | hg18 | 2 |
| M564 | del/dup | 4,349/1,397 | 4p16.3p16.2(62447-4411346)x1/7q36.3(157384149-158781397)x3 | hg18 | 2 |
| M192 | del/del | 2,132/1,431 | 4q31.21q31.22(144878812-147011076)x1/Xp22.31(6561155-7992120)x1 | hg18 | 6 |
| T013 | del/dup | 28,400/11,947 | 4q32.2q35.2(162914399-191314689)x1/3q27.2q29(187378521-199325500)x3 | hg17 | 2 |
| M470 | del/dup | 5,739/9,993 | 5p15.33p15.32(148243-5887664)x1/16q23.2q24.3(78658713-88651780)x3 | hg18 | 2 |
| T037 | del/dup | 1,872/27,999 | 6p25.3(204328-2076297)x1/9p24.3p21.1(204167-28203565)x3 | hg17 | 2 |
| M411 | del/dup | 9,362/2,984 | 6p25.2p24.1(4014025-13376010)x1/6p24.1p22.3(13419730-16403770)x3 | hg18 | 4 |
| M347 | del/dup | 3,181/5,277 | 7p22.3p22.2(149268-3330301)x1/9q34.13q34.3(134852111-140128736)x3 | hg18 | 3 |
| Y451 | del/dup | 14,193/3,283 | 7p21.3p15.3(7407526-21600331)x1/7p22.3p22.2(149268-3431999)x3 | hg17 | 4 |
| M119 | del/dup | 7,702/6,748 | 7q36.1q36.3(150706898-158409214)x1/22q13.31q13.33(42720092-49468408)x3 | hg18 | 2 |
| M449 | del/dup | 3,918/5,822 | 7q36.2q36.3(154684956-158602499)x1/9q34.13q34.3(134251761-140073968)x3 | hg18 | 2 |
| M479 | del/dup | 6,720/17,530 | 8p23.1p23.3(181530-6901486)x1/8p12p23.1(12627630-30157579)x3 | hg18 | 4 |
| Y222 | dup/dup | 42,685/40,034 | 8p23.31p11.2(181530-42866112)x3/9p24.3p12(204367-40238102)x3 | hg17 | 2 |
| Y006 | del/dup | 7,109/10,669 | 8p23.3p23.1(181530-7290597)x1/8p21.3p23.1(12285464-22954412)x3 | hg17 | 4 |
| M323 | del/dup | 4,366/38,156 | 9p24.2p24.1(4142060-8508353)x1/9q13q31.2(70225166-108381595)x3 | hg18 | 5 |
| T019 | del/del | 14,426/470 | 9p22.3p24.3(204367-14629971)x1/9q34.11(129926621-130396376)x1 | hg17 | 6 |
| A018 | del/dup | 2,683/58,847 | 10q26.3(132610756-135293404)x1/4q28.3q35.2(132273948-191121344)x3 | hg18 | 2 |
| A002 | del/dup | 1,422 /5,589 | 10q26.3(133871004-135293404)x1/17q25.3(73034631-78623230)x3 | hg17 | 2 |
| Y279 | dup/dup | 17,723/4,253 | 11q23.3q25(116228648-133951370)x3/22q11.1q11.2(14433473-18686317)x3 | hg17 | 6 |
| M613 | del/dup | 5,607/18,843 | 12p13.33p13.31(179323-5786793)x1 | hg18 | 2 |
| 15q25.2q26.3(81325482-100168718)x3 | |||||
| Y017 | del/dup | 10,269/3,107 | 13q33.2q34(103855141-114123908)x1/1p36.3(807922-3914685)x3 | hg17 | 2 |
| M160 | del/dup | 1,300/1,178 | 14q13.2q13.3(35053035-36352972)x1/9p22.1p22.2(17492885-18671089)x3 | hg18 | 3 |
| A014 | dup/dup | 9,791/11,936 | 15q11.2q13.3(18362555-28153357)x3/15q11.2q13.3(18362555-30298096)x3 | hg17 | 6 |
| T058 | del/dup | 86/49,036 | 18p11.32(170029-255680)x1/18q12.11q23(27047211-76083258)x3 | hg17 | 5 |
| H177 | del/dup | 13,535/1,714 | 18p11.32p11.21(121700-13656290)x1/18p11.21(13656231-153706830)x3 | hg18 | 4 |
| T074 | del/dup | 2,943/8,234 | 18q23(73139833-76083258)x1/7p22.3p21.3(1490689-9724287)x3 | hg17 | 3 |
| H158 | del/dup | 5,545/20,681 | 18q22.3q23(70565916-76110964)x1/13q31.3q34(93433835-114114568)x3 | hg18 | 2 |
| Y199 | del/dup | 2,477/44,675 | 21q21.1(13926078-16402867)x1/13q11.1q21.31(18650699-63325724)x3 | hg17 | 3 |
| M483 | del/dup | 11,797/1,121 | 21q22.12q22.3(35084120-46880878)x1/21q22.11q22.12(33918888-35040082)x3 | hg18 | 4 |
| M295 | del/dup | 7,830/1,137 | 22q13.2q13.33(41219395-49049035)x1/22q13.2(40003772-41140907)x3 | hg18 | 4 |
| Y001 | del/dup/dup | 35,770/3,767/2,165 | Xp22.33p11.4(2693677-38463601)x1/9q34.13q34.3(134517453-138284752)x3/22q11.2(17539511-19704512)x3 | hg17 | 6 |
| M111 | del/dup | 3,735/61,522 | Xq28(150669991-154405159)x1/7q21.3q36.3(96887100-158409214)x3 | hg18 | 2 |
| T040 | del/dup | 4,020/25,202 | Yq11.222q11.223(19263493-23283748)x1/7q33q36.3(133400864-158602499)x3 | hg17 | 2 |
NCBI, National Center for Biotechnology Information; ISCN, International System for Human Cytogenetic Nomenclature (2009).