This application discloses a method, device, equipment, and medium for sex
chromosome detection based on a vector space
projection model, relating to the fields of
bioinformatics and
gene detection. The method includes: aligning high-
throughput sequencing data of the sample to be tested to a
reference genome for copy number analysis to obtain the overall copy number of the X and Y chromosomes; if there is an
abnormality in the overall copy number of the X /
Y chromosome, mapping the sample to be tested to a position point in a two-dimensional vector space based on the overall copy number of the X and Y chromosomes, and calculating the perpendicular distances from the sample to the multiple reference evolution vectors in the two-dimensional vector space, taking the sex
chromosome variation path represented by the reference evolution vector with the smallest distance as the sex
chromosome variation path of the sample to be tested; comparing and analyzing the overall copy number of the X /
Y chromosome with the judgment threshold corresponding to the sex chromosome variation path, and outputting the sex chromosome variation detection result.