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  2. Copy number variation - Wikipedia

    en.wikipedia.org/wiki/Copy_number_variation

    Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. [1] Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [2]

  3. Structural variation - Wikipedia

    en.wikipedia.org/wiki/Structural_variation

    Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome abnormality (though the ...

  4. Gene dosage - Wikipedia

    en.wikipedia.org/wiki/Gene_dosage

    The normal gene dosage is dependent on the species; humans generally have two doses -- one copy from the mother and one from the father. Changes in gene dosage can be a result of copy number variation (gene insertions or gene deletions), or aneuploidy (chromosome number abnormalities). These changes can have significant phenotypic consequences.

  5. Copy number analysis - Wikipedia

    en.wikipedia.org/wiki/Copy_number_analysis

    Copy number analysis is the process of analyzing data produced by a test for DNA copy number variation in an organism's sample. One application of such analysis is the detection of chromosomal copy number variation that may cause or may increase risks of various critical disorders.

  6. Structural variation in the human genome - Wikipedia

    en.wikipedia.org/wiki/Structural_variation_in...

    Structural variation is an important type of human genetic variation that contributes to phenotypic diversity. [2] There are microscopic and submicroscopic structural variants which include deletions, duplications, and large copy number variants as well as insertions, inversions, and translocations. [1]

  7. Genome-wide association study - Wikipedia

    en.wikipedia.org/wiki/Genome-wide_association_study

    GWA studies typically identify common variants with small effect sizes (lower right).[7]Any two human genomes differ in millions of different ways. There are small variations in the individual nucleotides of the genomes as well as many larger variations, such as deletions, insertions and copy number variations.

  8. Minisatellite - Wikipedia

    en.wikipedia.org/wiki/Minisatellite

    In alternative models, it is the presence of neighbouring double-strand hotspots which is the primary cause of minisatellite repeat copy number variations. Somatic changes are suggested to result from replication difficulties (which might include replication slippage , among other phenomena).

  9. 1q21.1 copy number variations - Wikipedia

    en.wikipedia.org/wiki/1q21.1_copy_number_variations

    1q21.1 copy number variations (CNVs) [1] are rare aberrations of human chromosome 1. In a common situation a human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 CNVs one chromosome of the pair is not complete because a part of the sequence of the chromosome is missing, or overcomplete, because some parts of the ...