Assay Details
Target Gene Details
Entrez Gene ID: | 84033 |
Gene Name: | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
Gene Aliases: |
ARHGEF30, UNC89 |
Location: |
Chr.1:228208013-228381431 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1160102 | Chr.1:228081212 - 228239280 on Build GRCh38 | Deletion | MIR3620 ARF1 MRPL55 GJC2 IBA57 C1orf145 C1orf35 OBSCN IBA57-AS1 GUK1 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | WNT3A JMJD4 PRSS38 WNT9A MIR6742 LOC101060022 MIR3620 ARF1 MRPL55 MIR4666A GJC2 IBA57 TRIM11 OBSCN GUK1 LOC101927401 LOC100506571 LOC107985355 LOC105373289 MIR5008 HIST3H2BB HIST3H2A HIST3H3 C1orf145 RNF187 SNAP47 C1orf35 TRIM17 IBA57-AS1 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | WNT3A JMJD4 RNA5S4 PRSS38 RNA5S7 MIR6742 ARF1 MIR4666A RNA5S9 GJC2 TRIM11 OBSCN RNA5S8 GUK1 RNA5S14 HIST3H2BB DUSP5P1 SNAP47 C1orf35 IBA57-AS1 RNA5S12 WNT9A RNA5S11 RNA5S10 LOC101060022 MIR3620 RNA5S3 MRPL55 IBA57 RNA5S16 LOC105373132 LOC101927401 LOC100506571 RNA5S17 LOC107985355 RNA5S1 BTNL10 RHOU LOC105373289 MIR5008 RNA5S6 HIST3H2A HIST3H3 RNA5S15 C1orf145 RNF187 RNA5S13 RNA5S5 RNA5S2 TRIM17 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | MIR6742 HIST3H2BB MIR4666A GJC2 IBA57 HIST3H2A HIST3H3 C1orf145 TRIM11 OBSCN TRIM17 IBA57-AS1 GUK1 LOC101927401 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | WNT3A WNT9A MIR6742 LOC101060022 MIR3620 ARF1 MRPL55 MIR4666A GJC2 IBA57 TRIM11 OBSCN GUK1 LOC101927401 LOC100506571 LOC107985355 MIR5008 HIST3H2BB HIST3H2A HIST3H3 C1orf145 RNF187 C1orf35 TRIM17 IBA57-AS1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |