obsolete variant copy number complement [GENO_0000955]

A copy number complement’ that has an abnormal number of members (e.g. more or less than two for an autosomal sequence in a diploid genome, as a result of deletion or duplication event(s). In a ’normal’ diploid genome, the copy number complement for any feature (on a non-Y chromosome) contains two members. A copy number variation occurs when a complement contains more or less than two members - as the result of deletion or duplication event(s). Note that the ‘copy number variation’ class in GENO is related to but ontologically distinct form the SO ‘copy_number_variation’ class. The GENO class refers to a set of all copies of a sequence in a genome, where the number of members in the set is in conflict with the genome’s normal ploidy (e.g. not two for a diploid genome). The SO class, which is defined as a sequence feature level concept and therefore represents a single continuous extent of sequence, refers to a single copy of duplicated (or deleted) sequence that comprises the set defined by the GENO CNV class.
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Open obsolete variant copy number complement in VFB

Term Information

  • ID: GENO_0000955
  • Name: obsolete variant copy number complement
  • Definition: A copy number complement’ that has an abnormal number of members (e.g. more or less than two for an autosomal sequence in a diploid genome, as a result of deletion or duplication event(s).
  • Synonyms:
  • Type:
  • Comment: In a ’normal’ diploid genome, the copy number complement for any feature (on a non-Y chromosome) contains two members. A copy number variation occurs when a complement contains more or less than two members - as the result of deletion or duplication event(s). Note that the ‘copy number variation’ class in GENO is related to but ontologically distinct form the SO ‘copy_number_variation’ class. The GENO class refers to a set of all copies of a sequence in a genome, where the number of members in the set is in conflict with the genome’s normal ploidy (e.g. not two for a diploid genome). The SO class, which is defined as a sequence feature level concept and therefore represents a single continuous extent of sequence, refers to a single copy of duplicated (or deleted) sequence that comprises the set defined by the GENO CNV class.

VFB Term Json

{
    "term": {
        "core": {
            "iri": "http://purl.obolibrary.org/obo/GENO_0000955",
            "symbol": "",
            "types": [
                "Entity",
                "Class",
                "Deprecated"
            ],
            "short_form": "GENO_0000955",
            "unique_facets": [
                "Deprecated"
            ],
            "label": "obsolete variant copy number complement"
        },
        "description": [
            "A copy number complement' that has an abnormal number of members (e.g. more or less than two for an autosomal sequence in a diploid genome, as a result of deletion or duplication event(s)."
        ],
        "comment": [
            "In a 'normal' diploid genome, the copy number complement for any feature (on a non-Y chromosome) contains two members.  A copy number variation occurs when a complement contains more or less than two members - as the result of deletion or duplication event(s).\n\nNote that the 'copy number variation' class in GENO is related to but ontologically distinct form the SO 'copy_number_variation' class. The GENO class refers to a *set* of all copies of a sequence in a genome, where the number of members in the set is in conflict with the genome's normal ploidy (e.g. not two for a diploid genome). The SO class, which is defined as a sequence feature level concept and therefore represents a single continuous extent of sequence, refers to a single copy of duplicated (or deleted) sequence that comprises the set defined by the GENO CNV class."
        ]
    },
    "query": "Get JSON for Class",
    "version": "c58c844",
    "parents": [],
    "relationships": [],
    "related_individuals": [],
    "xrefs": [],
    "anatomy_channel_image": [],
    "pub_syn": [],
    "def_pubs": [
        {
            "core": {
                "symbol": "",
                "iri": "http://flybase.org/reports/Unattributed",
                "types": [
                    "Entity",
                    "Individual",
                    "pub"
                ],
                "short_form": "Unattributed",
                "unique_facets": [
                    "pub"
                ],
                "label": ""
            },
            "FlyBase": "",
            "PubMed": "",
            "DOI": ""
        }
    ]
}