Product Details

Assay Reference Genome
Location

Chr.8:2962550 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 63
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CSMD1 NM_033225.5 61 9934 NP_150094.5
XM_011534752.2 61 10163 XP_011533054.1
XM_011534753.2 44 7041 XP_011533055.1
XM_011534754.1 37 5777 XP_011533056.1
XM_017013731.1 61 10163 XP_016869220.1
AB209502.1 48 7797 BAD92739.1
AF333704.2 62 9940 AAK73475.2
AK127129.1 12 1952
AY017307.1 59 9304 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 CSMD1 LOC101927815 LOC105377792
dgv1357e214 Chr8:2895602 - 3065852 on Build GRCh38 Gain CSMD1 LOC105377792
esv3584570 Chr8:2827824 - 3129358 on Build GRCh38 Gain CSMD1 LOC105377792
esv3891261 Chr8:2316229 - 3462226 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792
dgv6815n100 Chr8:2193919 - 3295843 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377781 LOC105377792
nsv609710 Chr8:2872547 - 3175339 on Build GRCh38 Gain CSMD1 LOC105377792
dgv11848n54 Chr8:2320544 - 3445528 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792
esv3615898 Chr8:2952268 - 2969870 on Build GRCh38 Gain CSMD1
esv3584572 Chr8:2935217 - 3102350 on Build GRCh38 Gain CSMD1 LOC105377792
nsv1027569 Chr8:2660367 - 3086961 on Build GRCh38 Loss CSMD1 LOC101927815 LOC105377792
nsv1024325 Chr8:651043 - 3203837 on Build GRCh38 Gain KBTBD11-OT1 DLGAP2-AS1 ERICH1-AS1 CSMD1 DLGAP2 LOC401442 LOC101927815 LOC105377776 MIR596 MYOM2 ARHGEF10 LOC100131395 MIR7160 ERICH1 LOC101928058 MIR3674 LOC286083 CLN8 LOC101927752 LOC105377781 LOC105377774 LOC105377792 LOC105377777 KBTBD11
nsv517808 Chr8:2269008 - 3111255 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792
nsv520737 Chr8:2951975 - 2967728 on Build GRCh38 Gain CSMD1
nsv1034294 Chr8:2901778 - 3054246 on Build GRCh38 Gain CSMD1 LOC105377792
nsv1018407 Chr8:2866772 - 3447578 on Build GRCh38 Gain CSMD1 LOC105377792
dgv6827n100 Chr8:2473547 - 3062661 on Build GRCh38 Gain CSMD1 LOC101927815 LOC105377792

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