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 8 |
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 | IBA57-AS1 OBSCN IBA57 MIR3620 MRPL55 C1orf145 GUK1 C1orf35 GJC2 ARF1 |
nsv826908 | Chr.1:227707685 - 228503399 on Build GRCh38 | Gain | LOC101927401 SNAP47 MIR3620 HIST3H2BB C1orf145 WNT3A HIST3H3 ARF1 LOC107985355 LOC101060022 IBA57 HIST3H2A MIR6742 GJC2 WNT9A IBA57-AS1 OBSCN TRIM17 LOC100506571 JMJD4 PRSS38 MIR4666A MRPL55 GUK1 RNF187 C1orf35 MIR5008 LOC105373289 TRIM11 |
esv32853 | Chr.1:227692415 - 228670462 on Build GRCh38 | Gain | RNA5S17 LOC101927401 SNAP47 MIR3620 HIST3H2BB C1orf145 WNT3A ARF1 LOC107985355 RNA5S3 IBA57 MIR6742 BTNL10 LOC105373132 IBA57-AS1 OBSCN RNA5S16 RHOU LOC100506571 RNA5S6 MIR4666A MRPL55 RNA5S12 GUK1 RNF187 MIR5008 RNA5S5 RNA5S10 RNA5S9 TRIM11 RNA5S11 HIST3H3 RNA5S8 RNA5S14 LOC101060022 DUSP5P1 RNA5S2 HIST3H2A GJC2 WNT9A TRIM17 RNA5S13 JMJD4 PRSS38 RNA5S1 RNA5S15 C1orf35 RNA5S4 RNA5S7 LOC105373289 |
nsv827019 | Chr.1:228126466 - 228463319 on Build GRCh38 | Loss | IBA57-AS1 OBSCN TRIM17 LOC101927401 HIST3H2BB C1orf145 HIST3H3 MIR4666A IBA57 HIST3H2A GUK1 MIR6742 GJC2 TRIM11 |
nsv523935 | Chr.1:227850423 - 228494048 on Build GRCh38 | Loss | LOC101927401 MIR3620 HIST3H2BB C1orf145 WNT3A HIST3H3 ARF1 LOC107985355 LOC101060022 IBA57 HIST3H2A MIR6742 GJC2 WNT9A IBA57-AS1 OBSCN TRIM17 LOC100506571 MIR4666A MRPL55 GUK1 RNF187 C1orf35 MIR5008 TRIM11 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |