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Table 3 CNV results from CMA and EPIC array

From: DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

Molecular cohort

ID

CMA Start (hg19)*

CMA End (hg19)*

CMA length (Mbp)

EPIC Start (hg19)

EPIC End (hg19)

EPIC length (Mbp)

PHMDS-Small Del/Mut

MS2449

NA

NA

NA

NA

NA

NA

PHMDS-Small Del/Mut

MS2452

NA

NA

NA

NA

NA

NA

PHMDS-Small Del/Mut

MS2453

NA

NA

NA

NA

NA

NA

PHMDS-Small Del/Mut

MS2455

NA

NA

NA

NA

NA

NA

PHMDS-Small Del/Mut

MS2457

NA

NA

NA

NA

NA

NA

PHMDS-Small Del/Mut

MS2676

51,137,326

51,150,064

0.01

51,135,138

51,147,735

0.013

PHMDS-Small Del/Mut

MS2675

51,137,243

51,150,025

0.01

51,135,138

51,147,735

0.013

PHMDS-Small Del/Mut

MS2450

51,121,362

51,183,855

0.06

51,123,475

51,225,561

0.1

PHMDS-Small Del/Mut

MS2456

50,566,503

51,244,566

0.68

50,580,743

51,225,561

0.64

PHMDS-Small Del/Mut

MS2454

50,429,645

51,244,566

0.81

50,248,907

51,225,561

0.98

PHMDS-Large Del

MS2463

49,228,863

51,178,150

1.95

49,238,268

51,225,561

1.99

PHMDS-Large Del

MS2444

48,896,156

51,219,009

2.32

48,872,890

51,225,561

2.35

PHMDS-Large Del

MS2443

48,654,949

51,197,716

2.54

48,651,166

51,214,353

2.56

PHMDS-Large Del

MS2441

48,224,354

51,244,566

3.02

48,231,823

51,225,561

2.99

PHMDS-Large Del

MS2445

47,731,071

51,193,680

3.46

47,557,457

51,225,561

3.67

PHMDS-Large Del

MS2447

46,885,541

51,244,566

4.36

46,895,349

51,225,561

4.33

PHMDS-Large Del

MS2442

46,505,605

51,244,566

4.74

46,507,241

51,214,353

4.71

PHMDS-Large Del

MS2440

46,464,060

51,244,566

4.78

46,458,783

51,221,675

4.76

PHMDS-Large Del

MS2458

46,080,136

51,244,566

5.16

46,084,862

51,225,561

5.14

PHMDS-Large Del

MS2465

45,576,757

51,178,264

5.6

45,558,433

51,225,561

5.67

PHMDS-Large Del

MS2462

45,277,036

51,178,258

5.9

45,250,061

51,225,561

5.98

PHMDS Small Del/Mut *

MS2460

42,578,595

50,296,515

7.72

NA

NA

NA

  1. NA (not available): samples with intragenic variants in SHANK3 gene and mosaic PHMDS case. *Mosaic case. CNV copy number variants, CMA chromosome microarray analysis