obsolete copy number complement [GENO_0000956]

A set of all features in a particular genome whose sequence aligns with a particular location on a reference genome. Such features are typically on the scale of complete genes or larger. 1. Features described by ‘copy number’ are larger regions of sequence spanning one or more complete genes, or large chromosomal segment. Copies of these regions often become distributed across a genome at unknown locations. By contrast, short repeats, such as tri-nucelotide ‘CAG’ repeats in the Huntingtin gene, occur at defined locations (adjacent to the originating ‘CAG’ sequence), and can therefore be modeled as proper alleles. 2. A copy number complement, like any sequence feature complement, is a set of features in a particular genome that meet some criterion. The criterion in this case is that their sequence maps to that of a particular location in a reference sequence. So a copy number complement is the set of all features that share or align with a specified sequence defined on some reference. The sequence of member sequences need not exactly match that of the reference, as copies may accrue some alterations. What is important is that conceptually they represent exact or inexact copies of the reference sequence at a defining location. 3. 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). In GENO, a ‘copy number variation’ refers to a copy number complement’ that has an abnormal number of members.

Open obsolete copy number complement in VFB

Term Information

  • ID: GENO_0000956
  • Name: obsolete copy number complement
  • Definition: A set of all features in a particular genome whose sequence aligns with a particular location on a reference genome. Such features are typically on the scale of complete genes or larger.
  • Synonyms:
  • Type:
  • Comment: 1. Features described by ‘copy number’ are larger regions of sequence spanning one or more complete genes, or large chromosomal segment. Copies of these regions often become distributed across a genome at unknown locations. By contrast, short repeats, such as tri-nucelotide ‘CAG’ repeats in the Huntingtin gene, occur at defined locations (adjacent to the originating ‘CAG’ sequence), and can therefore be modeled as proper alleles. 2. A copy number complement, like any sequence feature complement, is a set of features in a particular genome that meet some criterion. The criterion in this case is that their sequence maps to that of a particular location in a reference sequence. So a copy number complement is the set of all features that share or align with a specified sequence defined on some reference. The sequence of member sequences need not exactly match that of the reference, as copies may accrue some alterations. What is important is that conceptually they represent exact or inexact copies of the reference sequence at a defining location. 3. 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). In GENO, a ‘copy number variation’ refers to a copy number complement’ that has an abnormal number of members.

VFB Term Json

{
    "term": {
        "core": {
            "iri": "http://purl.obolibrary.org/obo/GENO_0000956",
            "symbol": "",
            "types": [
                "Entity",
                "Class",
                "Deprecated"
            ],
            "short_form": "GENO_0000956",
            "unique_facets": [
                "Deprecated"
            ],
            "label": "obsolete copy number complement"
        },
        "description": [
            "A set of all features in a particular genome whose sequence aligns with a particular location on a reference genome.  Such features are typically on the scale of complete genes or larger."
        ],
        "comment": [
            "1. Features described by 'copy number' are larger regions of sequence spanning one or more complete genes, or large chromosomal segment. Copies of these regions often become distributed across a genome at unknown locations. By contrast, short repeats, such as tri-nucelotide 'CAG' repeats in the Huntingtin gene, occur at defined locations (adjacent to the originating 'CAG' sequence), and can therefore be modeled as proper alleles.  \n\n2. A copy number complement, like any sequence feature complement, is a set of features in a particular genome that meet some criterion. The criterion in this case is that their sequence maps to that of a particular location in a reference sequence.  So a copy number complement is the set of all features that share or align with a specified sequence defined on some reference. The sequence of member sequences need not exactly match that of the reference, as copies may accrue some alterations. What is important is that conceptually they represent exact or inexact copies of the reference sequence at a defining location.\n\n3. 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). In GENO, a 'copy number variation' refers to a copy number complement' that has an abnormal number of members."
        ]
    },
    "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": ""
        }
    ]
}