Dataset ID Technology Samples
EGAD00001007742 Illumina Genome Analyzer 2

Dataset Description

The cytogenetic analysis of probands was performed with a result of normal male karyotypes (46,XY). The microarray analysis on oligonucleotide 180K CGH+SNP microarray platform was then indicated resulting in a detection of a 8q24.23q24.3 duplication (694 kb) in both probands. The family-based real-time PCR confirmed this CNV in both probands and their unaffected mother. Based on the information obtained from databases mentioned above it was classified as likely benign.

Who controls access to this dataset

For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

Novel de novo pathogenic variant in the GNAI1 as a cause of severe disorders of intellectual development with autistic features
Contact person: Petr Broz
Email: broz [at] bioxsys [dot] cz
More details: EGAC00001002151


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