Product Details

Assay Reference Genome
Location

Chr.4:1366375 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 Exon 15 - Intron 15
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
AK292661.1
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 IDUA SLC26A1 GAK ATP5I LOC101928521 LOC107986211 LOC100129917 NKX1-1 DGKQ LOC101928548 UVSSA MYL5 PCGF3 PDE6B SPON2 MFSD7 CTBP1-AS CRIPAK RNF212 MAEA LOC100130872 TMED11P FGFRL1 CPLX1 CTBP1 TMEM175 LOC105374344 CTBP1-AS2
nsv593278 Chr4:1165892 - 1421910 on Build GRCh38 Loss LOC100130872 NKX1-1 LOC101928548 UVSSA CTBP1-AS CTBP1 CRIPAK CTBP1-AS2 SPON2 MAEA
nsv593302 Chr4:1344830 - 1420896 on Build GRCh38 Loss NKX1-1 UVSSA CRIPAK

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