Here you are: IMGT Web resources > IMGT Repertoire (IG and TR) > 1. Locus and genes
Citing this page: Lefranc MP, Lefranc G., Biomolecules. 2022 Feb 28;12(3):381. PMID: 35327572 pdf
  • Copy number variations (CNV) refer to structural alterations, such as deletions, insertions, and duplications which cause alterations in the gene copy number. Within the human IGH locus, seven CNVs have been identified: six for IGHV genes and one for IGHC genes. See Locus gene order: Human (Homo sapiens) IGH.
  • The IMGT CNV nomenclature consists of the genus and species names in italics, followed by the locus and the CNV number, from the 5' to the 3' end within the locus.
  • IMGT CNV is delimited by a functional gene at the 5' end and a functional gene at the 3' end.
  • The IMGT standardized definition of a CNV includes, the group, the order of the starting gene (following CNV-5prime), separated by a dash from the order of the ending gene (prior to CNV-3prime), specified within parentheses, followed by the total number of genes involved in the CNV (including RPI gene(s) if present) and within parentheses, the number of IG or TR per functionality (and the RPI if present).
  • IMGT CNV forms describe the variability of the gene number found within a specific CNV (Copy Number Variation).

    • Copy Number Variations (CNV) in human (Homo sapiens) IGH:

    References:
    [1] Lefranc, M.-P. and Lefranc, The Immunoglobulin FactsBook Academic Press, London, UK (458 pages), (2001). Print Book ISBN :9780124413511, eBook ISBN :9780080574479.
    [2] Watson C.T. et al., Am. J. Hum. Genet., 92, 530-546 (2013).