Product Details

Assay Reference Genome
Location

Chr.4:1364539 on build GRCh38
Cytoband
4p16.3
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
57654
Gene Symbol
UVSSA
Gene Name
UV stimulated scaffold protein A
Gene Aliases
KIAA1530, UVSS3
Location
Chr.4:1345662-1388049 on build GRCh38
Assay Gene Location
Overlaps Intron 13 - Intron 14
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
UVSSA NM_001317934.1 NP_001304863.1
NM_001317935.1 NP_001304864.1
NM_020894.3 NP_065945.2
XM_017008490.1 XP_016863979.1
XM_017008491.1 XP_016863980.1
XM_017008492.1 XP_016863981.1
XM_017008493.1 XP_016863982.1
XM_017008494.1 XP_016863983.1
XM_017008495.1 XP_016863984.1
XM_017008498.1 XP_016863987.1
XM_017008500.1 XP_016863989.1
AB040963.1
BC110331.1 AAI10332.1
BC140901.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv950332 Chr4:1364213 - 1367912 on Build GRCh38 Deletion UVSSA
nsv822425 Chr4:546316 - 1420011 on Build GRCh38 Loss TMEM175 UVSSA MFSD7 TMED11P SLC26A1 LOC101928521 CRIPAK CTBP1-AS FGFRL1 PCGF3 LOC105374344 IDUA ATP5I GAK MAEA RNF212 SPON2 DGKQ CTBP1 CPLX1 MYL5 CTBP1-AS2 LOC100130872 LOC107986211 LOC101928548 NKX1-1 PDE6B LOC100129917
nsv593278 Chr4:1165892 - 1421910 on Build GRCh38 Loss CTBP1 LOC101928548 NKX1-1 UVSSA MAEA CRIPAK CTBP1-AS2 CTBP1-AS LOC100130872 SPON2
nsv593302 Chr4:1344830 - 1420896 on Build GRCh38 Loss NKX1-1 UVSSA CRIPAK

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