Product Details

Assay Reference Genome
Location

Chr.8:2942500 on build GRCh38
Cytoband
8p23.2
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
64478
Gene Symbol
CSMD1
Gene Name
CUB and Sushi multiple domains 1
Gene Aliases
PPP1R24
Location
Chr.8:2935353-4995035 on build GRCh38
Assay Gene Location
Overlaps Intron 72 - Exon 72
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CSMD1 NM_033225.5 NP_150094.5
XM_011534752.2 XP_011533054.1
XM_011534753.2 XP_011533055.1
XM_011534754.1 XP_011533056.1
AB209502.1 BAD92739.1
AF333704.2 AAK73475.2
AK127129.1
AY017307.1 AAG52948.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv1033589 Chr8:2490387 - 3447578 on Build GRCh38 Loss LOC105377792 LOC101927815 CSMD1
dgv1357e214 Chr8:2895602 - 3065852 on Build GRCh38 Gain LOC105377792 CSMD1
esv3584570 Chr8:2827824 - 3129358 on Build GRCh38 Gain LOC105377792 CSMD1
esv3891261 Chr8:2316229 - 3462226 on Build GRCh38 Gain LOC105377792 LOC101927815 CSMD1
esv3615892 Chr8:2811468 - 2947245 on Build GRCh38 Gain CSMD1
esv3572405 Chr8:2939846 - 2947404 on Build GRCh38 Loss CSMD1
dgv6815n100 Chr8:2193919 - 3295843 on Build GRCh38 Gain LOC105377781 LOC105377792 LOC101927815 CSMD1
nsv609710 Chr8:2872547 - 3175339 on Build GRCh38 Gain LOC105377792 CSMD1
dgv11848n54 Chr8:2320544 - 3445528 on Build GRCh38 Gain LOC105377792 LOC101927815 CSMD1
esv3584572 Chr8:2935217 - 3102350 on Build GRCh38 Gain LOC105377792 CSMD1
nsv1027569 Chr8:2660367 - 3086961 on Build GRCh38 Loss LOC105377792 LOC101927815 CSMD1
nsv1024325 Chr8:651043 - 3203837 on Build GRCh38 Gain LOC105377781 LOC401442 LOC100131395 LOC105377792 CSMD1 KBTBD11 LOC101928058 LOC105377776 ARHGEF10 ERICH1-AS1 CLN8 MYOM2 KBTBD11-OT1 LOC105377777 MIR7160 DLGAP2 LOC101927815 DLGAP2-AS1 LOC101927752 LOC286083 MIR596 LOC105377774 MIR3674 ERICH1
nsv517808 Chr8:2269008 - 3111255 on Build GRCh38 Gain LOC105377792 LOC101927815 CSMD1
nsv1034294 Chr8:2901778 - 3054246 on Build GRCh38 Gain LOC105377792 CSMD1
nsv1018407 Chr8:2866772 - 3447578 on Build GRCh38 Gain LOC105377792 CSMD1
nsv831209 Chr8:2767402 - 2954003 on Build GRCh38 Loss CSMD1
dgv6827n100 Chr8:2473547 - 3062661 on Build GRCh38 Gain LOC105377792 LOC101927815 CSMD1

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