Genomic deletion-insertion variant

A human genetic sequence change where, compared to a genomic reference sequence, one or more nucleotides are replaced by one or more other nucleotides and which is not a substitution, inversion or conversion.

人类遗传序列中的变化，相较于基因组参考序列，一个或多个核苷酸被一个或多个其他核苷酸所替代，且该变化非替换、倒置或转换。