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Table 2 Large annotated CNV events (>500 kb) detected in RD cases

From: Investigating the effects of copy number variants on reading and language performance

Subject

Family

Chr

Start (kb)

End (kb)

SNPs

Length (kb)

CopyN

Frequency

Gene

PC1

IQadjPC1

IBGdiscr

IBG143157

3914

2

96,196

96,737

26

541

3

Common

FAHD2CP,GPAT2,LINC00342,TRIM43

−2.51

−2.59

−3.29

IBG112039

3576

11

48,397

48,943

33

546

1

Common

OR4A47

−0.59

−0.43

−1.76

IBG1448951

4442

14

19,848

20,420

17

573

3

Common

10 genes (including several OR genes)a

−0.97

−1.05

−2.83

IBG143577

4010

2

132,731

133,354

120

622

3

Common

ANKRD30BL,GPR39,MIR663B

−1.73

−1.54

−2.09

IBG112079

3906

8

105,737

106,407

147

670

3

Rare

ZFPM2

−1.56

−1.65

−1.98

IBG111829

2856

11

49,770

50,283

44

513

3

Common

LOC440040,LOC441601,OR4C12,OR4C13

−1.93

−1.74

−2.78

IBG112389

4048

5

45,672

46,399

35

727

3

Common

HCN1

−1.47

−1.57

−3.18

IBG145160

4499

11

54,794

56,004

190

1209

3

Common

30 genes (including several OR and TRIM genes)b

−2.21

−2.05

−3.63

IBG1451651

4499

11

54,794

56,004

190

1209

3

Common

30 genes (including several OR and TRIM genes)b

−1.83

−1.74

−2.14

IBG111948

3523

16

14,975

16,303

419

1328

3

Common

27 genes (including several microRNAs)c

−1.55

−1.53

−1.61

  1. When a CNV is annotated to more than five RefSeq genes, these are reported in a footnote (see below). All the CNVs partially overlapped or encompassed the genes to which they were annotated. All the positions are expressed in hg19 coordinates. The frequency column specifies how each CNV call showed substantial overlaps (≥50 %) with any CNV reported in the DGV database (July 2013, hg19): ≥5 overlaps for common CNVs, <5 overlaps for rare CNVs. An extended format of this table including further details is available in Additional file 2: Table S2a)
  2. aBMS1P17, BMS1P18, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEM
  3. bOR10AG1, OR4A15, OR4A16, OR4C11, OR4C15, OR4C16, OR4C6, OR4P4, OR4S2, OR5AS1, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5J2, OR5L1, OR5L2, OR5T2, OR5W2, OR7E5P, OR8H2, OR8H3, OR8I2, OR8J3, OR8K5, TRIM48, TRIM51, TRIM51HP
  4. cABCC1, ABCC6, C16orf45, FOPNL, KIAA0430, LOC100288162, MIR3179-1, MIR3179-2, MIR3179-3, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR484, MIR6506, MIR6511A-2, MIR6511B-1, MIR6770-2, MPV17L, MYH11, NDE1, NOMO1, NPIPA1, NPIPA5, NTAN1, PDXDC1, RRN3