Hs03350597_cn

• Gene Symbol: CFHR5
• Assay Reference Genome Location: Chr.1:196978925 on build GRCh38
• Cytoband: 1q31.3

Target Gene Details

• Entrez Gene ID: 81494
• Gene Name: complement factor H related 5
• Gene Aliases: CFHL5, CFHR5D, FHR-5, FHR5
• Location: Chr.1:196975022-197009725 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFHR5	NM_030787.3			NP_110414.1
	XM_011510020.2			XP_011508322.1
	AF295327.1			AAK15619.1
	AK314026.1
	BC026282.1
	BC111773.1			AAI11774.1
	DA638244.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
dgv12e55	Chr.1:196762018 - 197042447 on Build GRCh38	Gain	CFHR3 CFHR1 CFHR5 F13B CFHR2 CFHR4
nsv469599	Chr.1:196827346 - 196986100 on Build GRCh38	Loss	CFHR1 CFHR5 CFHR2 CFHR4
nsv428290	Chr.1:196621707 - 196992672 on Build GRCh38	Gain+Loss	CFHR3 CFHR1 CFHR5 CFHR2 CFH CFHR4
esv3588486	Chr.1:196970045 - 196983172 on Build GRCh38	Loss	CFHR5
nsv471614	Chr.1:196700381 - 196986100 on Build GRCh38	Gain+Loss	CFHR3 CFHR1 CFHR5 CFHR2 CFH CFHR4
esv2721051	Chr.1:196970051 - 196983169 on Build GRCh38	Deletion	CFHR5
nsv528460	Chr.1:196573437 - 197477572 on Build GRCh38	Gain	ZBTB41 CFHR3 CFHR1 MIR4735 CFHR5 F13B CRB1 CFHR2 KCNT2 ASPM CFH CFHR4
nsv8702	Chr.1:196974722 - 196985445 on Build GRCh38	Loss	CFHR5

More Information

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

Gene Ontology Categories:

Process(es)

complement activation, alternative pathway