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.

人类基因序列的变异，相较于基因组参考序列，其中一个或多个核苷酸被一个或多个其他核苷酸所替换，且非替换、倒位或转换。