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Table 3 Annotated CNVs shared between two or more affected co-siblings in ten families presenting more than one RD case, which were not detected in any unaffected participant

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

IBG145160

4499

11

54,794

56,004

190

1209

3

Common

30 genes (including several OR and TRIM genes)a

−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)a

−1.83

−1.74

−2.14

IBG142799

3514

6

145,148

145,175

15

27

3

Rare

UTRN

−1.62

−1.35

−2.12

IBG142797

3514

6

145,148

145,175

15

27

3

Rare

UTRN

−1.84

−2

−1.66

IBG142799

3514

1

225,391

225,454

14

63

3

Common

DNAH14

−1.62

−1.35

−2.12

IBG142797

3514

1

225,391

225,454

14

63

3

common

DNAH14

−1.84

−2

−1.66

  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 S2b
  2. aOR10AG1, 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