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Updated: Aug 8, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Analysis of copy number variation in the normal human population within a region containing complex segmental
Cecilia de Bustos1, Teresita Díaz de Ståhl, Arkadiusz Piotrowski
1Rudbeck Laboratory, Department of Genetics and Pathology, Uppsala University, 751 85 Uppsala, Sweden. cecilia.bustos@genpat.uu.se
Abstract:
A previously detected copy number polymorphism (Ep CNP) in patients affected with neuroectodermal tumors led us to investigate its frequency and length in the normal population. For this purpose, a program called Sequence Allocator was developed and applied for the construction of an array that consisted of unique and duplicated fragments, allowing the assessment of copy number variation within regions of segmental duplications. The average resolution of this array was 11 kb and we determined the size of the Ep CNP to be 290 kb. Analysis of normal controls identified 7.7 and 7.1% gains in peripheral blood and lymphoblastoid cell line (LCL) DNA, respectively, while deletions were found only in the LCL group (7.1%). This array platform allows the detection of DNA copy number variation within regions of pronounced genomic complexity, which constitutes an improvement over available technologies.
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