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Table 1 Data analysis: CNV, AOH detection by SNP microarray

From: A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report

Event

Aberrant cell fraction %

Estimated copy number

Estimated copy number of tumor fraction

ISCN nomenclature

Length Mb

Gene count

CIVIC gene count

COSMIC census tier I count

CN loss

44.3

1.49

1

5q15q21.3(92645401_102210820) × 1 ~ 2

12.87

52

0

0

CN loss

43.9

1.49

1

5q14.3(87333557_90841423) × 1 ~ 2

3.51

19

0

0

CN loss

43.4

1.51

1

5q21.3q33.1(106408771_151202965) × 1 ~ 2

44.79

452

5

5

CN gain

54.4

2.65

3

20p13p12.3(2014047_8404702) × 2 ~ 3

6.39

88

1

0

AOH

38.5

2/AOH

2/AOH

17p13.3p11.2(1_18289923)x2 mos hmz

18.29

394

9

9

  1. CEL data files generated by the Affymetrix scanner were directly analyzed using NxClinical 6.1 (BioDiscovery, LLC) for copy number variation (CNV) and copy neutral loss of heterozygosity (CN-LOH) variants at an analytical resolution of 25 kb and 3 Mb, respectively