Variation class
Allele type(s)

Duplication(SO:1000035)

Source

DGVa - Database of Genomic Variants Archive

Study

estd208 - Helbig 2013 "Genetics and particularly Copy Number Variations (CNVs) have emerged as significant genetic risk factors for epilepsy. This study aimed to clarify the relevance of CNVs in patients with unclassified epilepsies and complex phenotypes. In total 222 patients from three European countries, including patients with structural lesions on magnetic resonance imaging (MRI), dysmorphic features, and multiple congenital anomalies (MCA), were clinically evaluated and screened for CNVs. Array CGH uncovered 88 rare CNV). We conclude that Genome-wide screening methods for rare CNVs may provide clues for the genetic etiology in patients with a broad range of epilepsies."

Clinical significance

Location

Chromosome 1:45736689-45881695 (forward strand) | View in location tab

Genomic size

145,007 bp

Structural variation displays