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PAV (Present/Absent variation) PAV (Presence/Absence Variation) refers to the genetic variation where specific DNA sequences of a gene are either present or absent among individuals. It is a type of structural variation, corresponding to insertions or deletions. PAV contributes to genetic diversity and has been reported to significantly influence phenotypic variability. To discover such PAVs, NGS (Next-Generation Sequencing) data is utilized to explore differences in read depth between individuals, thereby identifying… Read more

CNV (Copy number variation) CNV (Copy Number Variation) refers to the phenomenon where the copy number of specific DNA sequences in genes varies among individuals. It is a type of structural variation, corresponding to duplications or deletions. CNVs contribute to genetic diversity and have been reported to significantly influence phenotypic variability. To discover such CNVs, NGS (Next- Generation Sequencing) data is used to explore differences in read depth between individuals, thereby identifying the presence of these… Read more

Deletion(DEL), Insertion(INS), Inversion(INV), Intrachromosomal… SV (Structural variation) typically refers to mutations that include deletions, insertions, duplications, inversions, and translocations observed among individuals of the same species. These are large structural changes exceeding 50 base pairs that cannot be detected by SNPs (Single Nucleotide Polymorphisms) or small insertions/deletions. To accurately identify SVs, supporting read-pair counts are provided, and breakpoints help pinpoint the location and size of the structural variations.… Read more

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Structural variant