Assay Details
Target Gene Details
Entrez Gene ID: | 3257 |
Gene Name: | HPS1, biogenesis of lysosomal organelles complex 3 subunit 1 |
Gene Aliases: |
BLOC3S1, HPS |
Location: |
Chr.10:98415068-98446963 on Build GRCh38 |
Assay Gene Location: | Within Intron 18 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv524427 | Chr.10:98408615 - 98452617 on Build GRCh38 | Loss | LOC101927278 HPS1 PYROXD2 MIR4685 |
nsv515723 | Chr.10:98388419 - 98435072 on Build GRCh38 | Loss | MIR1287 HPS1 PYROXD2 MIR4685 |
nsv831955 | Chr.10:98402137 - 98592058 on Build GRCh38 | Gain | LOC101927278 HPSE2 HPS1 PYROXD2 MIR4685 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |