Hs06164679_cn

• Gene Symbol: CSMD1
• Assay Reference Genome Location: Chr.8:2944759 on build GRCh38
• Cytoband: 8p23.2

Target Gene Details

• Entrez Gene ID: 64478
• Gene Name: CUB and Sushi multiple domains 1
• Gene Aliases: PPP1R24
• Location: Chr.8:2935353-4995035 on Build GRCh38
• Assay Gene Location: Within Intron 71

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript 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	Chr.8:2490387 - 3447578 on Build GRCh38	Loss	LOC101927815 CSMD1 LOC105377792
dgv1357e214	Chr.8:2895602 - 3065852 on Build GRCh38	Gain	CSMD1 LOC105377792
esv3584570	Chr.8:2827824 - 3129358 on Build GRCh38	Gain	CSMD1 LOC105377792
esv3891261	Chr.8:2316229 - 3462226 on Build GRCh38	Gain	LOC101927815 CSMD1 LOC105377792
esv3615892	Chr.8:2811468 - 2947245 on Build GRCh38	Gain	CSMD1
esv3572405	Chr.8:2939846 - 2947404 on Build GRCh38	Loss	CSMD1
dgv6815n100	Chr.8:2193919 - 3295843 on Build GRCh38	Gain	LOC101927815 CSMD1 LOC105377781 LOC105377792
nsv609710	Chr.8:2872547 - 3175339 on Build GRCh38	Gain	CSMD1 LOC105377792
dgv11848n54	Chr.8:2320544 - 3445528 on Build GRCh38	Gain	LOC101927815 CSMD1 LOC105377792
esv3584572	Chr.8:2935217 - 3102350 on Build GRCh38	Gain	CSMD1 LOC105377792
nsv1027569	Chr.8:2660367 - 3086961 on Build GRCh38	Loss	LOC101927815 CSMD1 LOC105377792
nsv1024325	Chr.8:651043 - 3203837 on Build GRCh38	Gain	LOC105377777 DLGAP2-AS1 MIR3674 LOC100131395 ERICH1 DLGAP2 LOC105377776 LOC401442 LOC105377774 LOC105377781 LOC105377792 LOC101927752 KBTBD11 LOC101927815 MYOM2 KBTBD11-OT1 MIR7160 CSMD1 MIR596 CLN8 LOC101928058 ERICH1-AS1 ARHGEF10 LOC286083
nsv517808	Chr.8:2269008 - 3111255 on Build GRCh38	Gain	LOC101927815 CSMD1 LOC105377792
nsv1034294	Chr.8:2901778 - 3054246 on Build GRCh38	Gain	CSMD1 LOC105377792
nsv1018407	Chr.8:2866772 - 3447578 on Build GRCh38	Gain	CSMD1 LOC105377792
nsv831209	Chr.8:2767402 - 2954003 on Build GRCh38	Loss	CSMD1
dgv6827n100	Chr.8:2473547 - 3062661 on Build GRCh38	Gain	LOC101927815 CSMD1 LOC105377792

More Information

Additional Information:

For this assay, SNP(s) [rs78111778] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation