TABLE 2.
List of additional SVs detected in this cohort.
| Case ID | FetalSeq (CNV analysis) | Additional findings | Size (bps) | Gene(s) on breakpoints |
|---|---|---|---|---|
| Deletion | ||||
| 42 | Negative | seq[GRCh37] del(9)(q21.32) chr9:g.85918802_85929907del | 11,105 | FRMD3 |
| 15 | Negative | seq[GRCh37] del(8)(p22) chr8:g.17937910_17946394del; | 8,484; | ASAH1 |
| seq[GRCh37] del(1)(q21.3) chr1:g.152250046_152295889del | 45,843; | FLG | ||
| 21 | VUS, seq[GRCh37] del(7)(q32.3q33) chr7:g.132543248_132639078del | seq[GRCh37] del(17)(q25.1) chr17:g.70909687_70947878del | 38,191 | SLC39A11 |
| 23 | Negative | seq[GRCh37] del(10)(p12.1) chr10:g.27294954_27304416del | 9,462 | ANKRD26 |
| Inversion | ||||
| 4 | VUS, seq[GRCh37] dup(8)(p23.2) chr8:g.3700597_5946301dup | seq[GRCh37] inv(14)(q21.2)(pter- > q21.2(+)(44888815)::q21.2(-)(44950538)<-q21.2(-)(44890455)::q21.2(+)(44958120)- > qter) | 69,305 | — |
| 25 | Negative | seq[GRCh37] inv(1)(p22.3)(pter- > p22.3(+)(85672144)::p22.3(-)(85684901)<-p22.3(-)(85672336)::p22.3(+)(85685338)- > qter) | 13,194 | — |
| 47 | Negative | seq[GRCh37] inv(3)(p24.1)(pter- > p24.1(+)(94294177)::p24.1(-)(94319877)<-p24.1(-)(94296491)- > p24.1(+)(94320566)- > qter) | 26,389 | — |
| 65 | VUS, seq[GRCh37] dup(7)(q21.11) chr7:g.82027618_82168623dup | seq[GRCh37] inv(6)(q12)(pter- > q12(+)(66827535)::q12(-)(68075879)<-q12(-)(66828312)::q12(+)(68076174)- > qter) | 1,248,639 | — |
| 66 | Negative | seq[GRCh37] inv(8)(p11.1q11.1)(pter- > p11.1(+)(43669974)::q11.1(-)(48070098)<-p11.1(-)(43671748)::q11.1(+)(48071062)- > qter)inv(15)(q26.3)(pter- > q26.3(+)(100271705)::q26.3(-)(100487648)<-q26.3(-)(100272211)::q26.3(+)(100489231)- > qter) | 4,401,088; | — |
| 217,526 | ||||
| Insertion | ||||
| 11 | Negative | seq[GRCh37] ins(5;5)(q35.3;q35.3)(pter- > q35.3(+)(180499168)::q35.3(-)(180478893)<-q35.3(+)(180416486)::q35.3(+)(180501005)- > qter) dup(5)(q35.3) chr5:g.180416486_180478893dup | 20,275 | BTNL3-BTNL9 |
| 30 | Negative | Dup ins and flanking dup | ||
| seq[GRCh37] ins(8;8)(p23.1;p23.3)(pter- > p23.1(+)(6513172)::p23.3(-)(1543512)<-p23.3(-)(1114809)::p23.1(+)(6439080)- > pter) | 428,703; | DLGAP2; | ||
| dup(8)(p23.3) chr8:g.1114809_1543512dup | 74, 039 | MCPH11 | ||
| dup(8)(p23.1) chr8:g.6439080_6513172dup | ||||
| 36 | VUS, seq[GRCh37] dup(15)(q21.3) chr15:g.54467876_55401968dup | Dup ins and flanking dup | ||
| seq[GRCh37] ins(8;8)(q23.1;q22.3)(pter- > q23.1(+)(1,10119574)::q22.3(-)(104589153)<-q22.3(-)(104465936)::q23.1(+)(109821483)- > qter) dup(8)(q22.3) chr8:g.104465936_104589153dup dup(8)(q23.1) chr8:g.109821483_1,10119574dup | 123,217; | RIMS2; | ||
| 298,091 | TRHR | |||
| 45 | Negative | Dup ins and flanking dup | 42,546 | FMLN2, PRPF40A; |
| seq[GRCh37] ins(2;2)(q23.3;q23.3)(pter- > q23.3(+)(153563012)::q23.3(-)(153536242)<-q23.3(-)(153493696)::q23.3(+)(153542212)- > qter) dup(2)(q23.3) chr2:g.153493696_153536242dup | ||||
| dup(2)(q23.3) chr2:g.153542212_153563012dup | PRPF40A | |||
| 69 | Negative | Unresolved complex rearrangement | — | |