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 10 |
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 | MRPL55 C1orf35 GUK1 MIR3620 IBA57 GJC2 OBSCN ARF1 C1orf145 IBA57-AS1 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | C1orf35 MIR3620 LOC105373289 MIR4666A LOC101927401 WNT3A MIR5008 SNAP47 GUK1 HIST3H3 JMJD4 MIR6742 RNF187 C1orf145 IBA57-AS1 MRPL55 PRSS38 HIST3H2A TRIM11 IBA57 GJC2 TRIM17 LOC101060022 ARF1 LOC107985355 LOC100506571 OBSCN HIST3H2BB WNT9A |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S15 C1orf35 RNA5S17 LOC105373289 LOC101927401 RNA5S9 WNT3A RHOU RNA5S1 RNA5S3 SNAP47 GUK1 RNA5S7 LOC105373132 RNA5S4 JMJD4 IBA57-AS1 TRIM11 GJC2 RNA5S5 LOC101060022 LOC100506571 RNA5S8 BTNL10 HIST3H2BB WNT9A MIR3620 MIR4666A RNA5S11 RNA5S14 MIR5008 HIST3H3 MIR6742 RNF187 C1orf145 RNA5S6 MRPL55 PRSS38 RNA5S16 HIST3H2A RNA5S12 IBA57 RNA5S10 TRIM17 ARF1 DUSP5P1 RNA5S13 LOC107985355 RNA5S2 OBSCN |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | HIST3H2A TRIM11 MIR4666A IBA57 GJC2 TRIM17 LOC101927401 GUK1 HIST3H3 OBSCN MIR6742 C1orf145 HIST3H2BB IBA57-AS1 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | C1orf35 MIR3620 MIR4666A LOC101927401 WNT3A MIR5008 GUK1 HIST3H3 MIR6742 RNF187 C1orf145 IBA57-AS1 MRPL55 HIST3H2A TRIM11 IBA57 GJC2 TRIM17 LOC101060022 ARF1 LOC107985355 LOC100506571 OBSCN HIST3H2BB WNT9A |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |