Product Details

Assay Reference Genome
Location

Chr.8:2955676 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
Within Exon 67
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CSMD1 NM_033225.5 64 10297 NP_150094.5
XM_011534752.2 64 10526 XP_011533054.1
XM_011534753.2 47 7404 XP_011533055.1
XM_011534754.1 40 6140 XP_011533056.1
AB209502.1 51 8160 BAD92739.1
AF333704.2 65 10303 AAK73475.2
AK127129.1 15 2315
AY017307.1 62 9667 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
dgv6815n100 Chr8:2193919 - 3295843 on Build GRCh38 Gain LOC105377792 LOC105377781 LOC101927815 CSMD1
nsv609710 Chr8:2872547 - 3175339 on Build GRCh38 Gain LOC105377792 CSMD1
dgv11848n54 Chr8:2320544 - 3445528 on Build GRCh38 Gain LOC105377792 LOC101927815 CSMD1
esv3615898 Chr8:2952268 - 2969870 on Build GRCh38 Gain 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 LOC105377776 LOC100131395 LOC105377792 LOC286083 MIR596 DLGAP2 CLN8 ERICH1 LOC101927752 LOC105377777 LOC101928058 CSMD1 LOC401442 ERICH1-AS1 KBTBD11-OT1 LOC105377774 MYOM2 LOC105377781 DLGAP2-AS1 MIR3674 MIR7160 LOC101927815 KBTBD11 ARHGEF10
nsv517808 Chr8:2269008 - 3111255 on Build GRCh38 Gain LOC105377792 LOC101927815 CSMD1
nsv520737 Chr8:2951975 - 2967728 on Build GRCh38 Gain CSMD1
nsv1034294 Chr8:2901778 - 3054246 on Build GRCh38 Gain LOC105377792 CSMD1
nsv1018407 Chr8:2866772 - 3447578 on Build GRCh38 Gain LOC105377792 CSMD1
dgv6827n100 Chr8:2473547 - 3062661 on Build GRCh38 Gain LOC105377792 LOC101927815 CSMD1

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