Assay Details
Target Gene Details
Entrez Gene ID: | 114548 |
Gene Name: | NLR family pyrin domain containing 3 |
Gene Aliases: |
AGTAVPRL, AII, AVP, C1orf7, CIAS1, CLR1.1, FCAS, FCAS1, FCU, MWS, NALP3, PYPAF1 |
Location: |
Chr.1:247416156-247449108 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv833137 | Chr.1:247274015 - 247444126 on Build GRCh38 | Gain | LOC107985115 NLRP3 ZNF496 |
esv33129 | Chr.1:246911128 - 248165533 on Build GRCh38 | Gain+Loss | OR2G3 AHCTF1 ZNF496 ZNF670-ZNF695 OR2B11 OR2L8 OR2L13 TRIM58 OR9H1P OR2M1P OR6F1 VN1R5 OR2W5 LOC107985115 OR2C3 C1orf229 OR2T8 OR2L1P OR14A16 MIR3916 OR2M5 OR2AK2 OR2L5 OR2L2 GCSAML-AS1 NLRP3 OR11L1 OR1C1 ZNF670 OR2W3 OR2G2 ZNF669 GCSAML OR2L3 OR13G1 ZNF695 ZNF124 |
nsv1011097 | Chr.1:247402897 - 247503209 on Build GRCh38 | Gain | OR2W5 NLRP3 OR2B11 |
nsv509790 | Chr.1:247311000 - 247445876 on Build GRCh38 | Insertion | LOC107985115 NLRP3 ZNF496 |
esv2727751 | Chr.1:247433367 - 247434169 on Build GRCh38 | Deletion | NLRP3 |
esv2440127 | Chr.1:247432752 - 247434215 on Build GRCh38 | Deletion | NLRP3 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |