Hs04205070_cn

• Gene Symbol: CFHR5
• Assay Reference Genome Location: Chr.1:196977330 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 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CFHR5	XM_011510020.2			XP_011508322.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3891048	Chr.1:196971388 - 196977645 on Build GRCh38	Loss	CFHR5
dgv12e55	Chr.1:196762018 - 197042447 on Build GRCh38	Gain	CFHR2 CFHR3 CFHR4 CFHR1 F13B CFHR5
nsv469599	Chr.1:196827346 - 196986100 on Build GRCh38	Loss	CFHR2 CFHR4 CFHR1 CFHR5
nsv428290	Chr.1:196621707 - 196992672 on Build GRCh38	Gain+Loss	CFHR2 CFHR3 CFHR4 CFH CFHR1 CFHR5
nsv524689	Chr.1:196972363 - 196977645 on Build GRCh38	Loss	CFHR5
esv3588486	Chr.1:196970045 - 196983172 on Build GRCh38	Loss	CFHR5
nsv471614	Chr.1:196700381 - 196986100 on Build GRCh38	Gain+Loss	CFHR2 CFHR3 CFHR4 CFH CFHR1 CFHR5
esv2721051	Chr.1:196970051 - 196983169 on Build GRCh38	Deletion	CFHR5
nsv528460	Chr.1:196573437 - 197477572 on Build GRCh38	Gain	CRB1 CFHR2 MIR4735 CFHR3 CFHR4 CFH KCNT2 CFHR1 F13B CFHR5 ZBTB41 ASPM
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