Product Details

Assay Reference Genome Location: Chr.1:197002477 on build GRCh38
Cytoband: 1q31.3
Species: Homo sapiens
Variation Type: Copy Number

Additional Information

Target Gene Details

Entrez Gene ID: 81494
Gene Symbol: CFHR5
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: Overlaps Intron 8 - Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay 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

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2676788	Chr1:196987254 - 197007832 on Build GRCh38	Deletion	CFHR5
dgv12e55	Chr1:196762018 - 197042447 on Build GRCh38	Gain	CFHR5 CFHR4 CFHR1 CFHR2 CFHR3 F13B
esv2758990	Chr1:196621707 - 197200642 on Build GRCh38	Gain+Loss	CFHR5 ZBTB41 CFHR4 ASPM CFHR1 CFHR2 CFHR3 CFH F13B
nsv528460	Chr1:196573437 - 197477572 on Build GRCh38	Gain	CFHR5 ZBTB41 CRB1 MIR4735 KCNT2 CFHR4 ASPM CFHR1 CFHR2 CFHR3 CFH F13B
dgv72e214	Chr1:196987015 - 197011691 on Build GRCh38	Loss	CFHR5

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