CNVt

CNVt is an acronym that appears in genomics literature as shorthand for Copy Number Variation testing, a set of laboratory and computational methods used to identify copies of DNA segments that differ in copy number between an individual and a reference genome. CNVt focuses on deletions and duplications, ranging from kilobases to megabases, and may extend to more complex rearrangements that alter dosage of genes or regulatory elements.

Technologies commonly involved in CNVt include array-based comparative genomic hybridization (aCGH), single-nucleotide polymorphism (SNP) arrays, and sequencing-based approaches that infer copy number from read depth, split reads, or discordant paired-end mappings. CNVt analysis often requires normalization, quality control, and comparison to population reference datasets to distinguish pathogenic variants from benign variation.

Applications of CNVt span clinical diagnostics for developmental disorders and congenital anomalies, cancer genomics to identify somatic CNVs, and research into population genetics and evolutionary biology. In prenatal testing, CNVt can detect chromosomal imbalances that affect fetal development. The interpretation of CNVt results typically relies on gene content, dosage sensitivity data, and reference population frequencies, and may require multidisciplinary counseling.

Limitations include detection gaps for very small CNVs below assay resolution, mosaicism, and balanced rearrangements that do not change copy number. Interpretation can be challenging when variants of uncertain significance are encountered, and across different laboratories CNVt workflows may vary. Ethical considerations and informed consent are important components of CNVt testing programs.

See also: Copy number variation, aCGH, SNP array, sequencing-based CNV detection, genomic dosage.