Does the resequencing service detect and report copy number variations (CNVs)?
The only DNA variations that the Resequencing Centers will report are SNPs or small (less than 20 bp) insertion/deletion polymorphisms. While CNVs in the gene or region being sequenced may manifest as hemizygous or null (missing data) genotype data, it is not possible to assess such data as CNVs with confidence. In addition to using online databases such as the Structural Variation track at the UCSC genome browser (genome.ucsc.edu), investigators should consider other SNP genotyping methods or comparative genomic hybridization to verify suspected CNVs.
