Product Details

Assay Reference Genome
Location

Chr.1:196994200 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 Exon 5
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CFHR5 NM_030787.3 4 679 NP_110414.1
XM_011510020.2 4 586 XP_011508322.1
AF295327.1 4 644 AAK15619.1
AK314026.1 4 680
BC026282.1 4 660
BC111773.1 4 644 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 CFHR4 CFHR5 CFHR2 CFHR3 CFHR1 F13B
esv2758990 Chr1:196621707 - 197200642 on Build GRCh38 Gain+Loss CFHR4 CFHR5 CFHR2 CFH ZBTB41 CFHR3 ASPM CFHR1 F13B
nsv528460 Chr1:196573437 - 197477572 on Build GRCh38 Gain CRB1 CFHR4 CFHR5 CFHR2 CFH ZBTB41 CFHR3 ASPM KCNT2 MIR4735 CFHR1 F13B
dgv72e214 Chr1:196987015 - 197011691 on Build GRCh38 Loss CFHR5

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