Product Details

Assay Reference Genome
Location

Chr.1:196982208 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
Within Intron 2
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
DA638244.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
dgv12e55 Chr1:196762018 - 197042447 on Build GRCh38 Gain CFHR5 F13B CFHR2 CFHR1 CFHR4 CFHR3
nsv469599 Chr1:196827346 - 196986100 on Build GRCh38 Loss CFHR5 CFHR2 CFHR1 CFHR4
nsv428290 Chr1:196621707 - 196992672 on Build GRCh38 Gain+Loss CFHR5 CFHR2 CFHR1 CFH CFHR4 CFHR3
esv3588486 Chr1:196970045 - 196983172 on Build GRCh38 Loss CFHR5
nsv471614 Chr1:196700381 - 196986100 on Build GRCh38 Gain+Loss CFHR5 CFHR2 CFHR1 CFH CFHR4 CFHR3
esv2721051 Chr1:196970051 - 196983169 on Build GRCh38 Deletion CFHR5
nsv528460 Chr1:196573437 - 197477572 on Build GRCh38 Gain CFHR5 KCNT2 F13B CFHR2 CFHR1 ZBTB41 ASPM CFH CRB1 CFHR4 MIR4735 CFHR3
nsv8702 Chr1:196974722 - 196985445 on Build GRCh38 Loss CFHR5

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