Assay Details
Target Gene Details
Entrez Gene ID: | 89781 |
Gene Name: | HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 |
Gene Aliases: |
BLOC3S2, LE |
Location: |
Chr.22:26443613-26483863 on Build GRCh38 |
Assay Gene Location: | Within Intron 14 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv519472 | Chr.22:26458475 - 26463976 on Build GRCh38 | Loss | HPS4 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |