Assay Details
Target Gene Details
Entrez Gene ID: | 1470 |
Gene Name: | cystatin SA |
Gene Aliases: |
- |
Location: |
Chr.20:23823767-23826675 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 1 - Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CST2 | NM_001322.2 | NP_001313.1 | ||
BC062679.1 | AAH62679.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833944 | Chr.20:23825651 - 24041228 on Build GRCh38 | Gain | CST2 CST5 GGTLC1 |
esv3893323 | Chr.20:23785640 - 23843219 on Build GRCh38 | Loss | CST2 |
esv3645532 | Chr.20:23766439 - 23847966 on Build GRCh38 | Loss | CST2 |
nsv585727 | Chr.20:23750775 - 23827687 on Build GRCh38 | Loss | CST2 CST1 |
dgv783e199 | Chr.20:23765468 - 23850637 on Build GRCh38 | Deletion | CST2 |
nsv436326 | Chr.20:23777132 - 23857504 on Build GRCh38 | Deletion | CST2 |
nsv3336 | Chr.20:23823444 - 23868306 on Build GRCh38 | Deletion | CST2 |
dgv654e201 | Chr.20:23702183 - 23891211 on Build GRCh38 | Deletion | CST2 CST1 CST5 |
esv3645537 | Chr.20:23821040 - 23860450 on Build GRCh38 | Loss | CST2 |
esv2722310 | Chr.20:23771157 - 23858223 on Build GRCh38 | Deletion | CST2 |
nsv965865 | Chr.20:23803466 - 23855906 on Build GRCh38 | Duplication | CST2 |
nsv585729 | Chr.20:23785459 - 23855487 on Build GRCh38 | Loss | CST2 |
esv3893322 | Chr.20:23630722 - 23961231 on Build GRCh38 | Gain | CST4 CST2 CST3 CST1 CST5 |
More Information
Additional Information:
Set Membership: |
Intragenic Non-exonic DGV Variation Validated |