Product Details

Assay Reference Genome
Location

Chr.4:1346394 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
Within Exon 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
UVSSA XM_017008493.1 XP_016863982.1
XM_017008496.1 1 594 XP_016863985.1
XM_017008497.1 1 593 XP_016863986.1
XM_017008499.1 1 98 XP_016863988.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv593298 Chr4:1250479 - 1348733 on Build GRCh38 Loss MAEA UVSSA CTBP1-AS2
nsv822425 Chr4:546316 - 1420011 on Build GRCh38 Loss RNF212 LOC101928548 DGKQ LOC101928521 TMEM175 CTBP1-AS2 LOC107986211 FGFRL1 SLC26A1 CRIPAK ATP5I LOC105374344 PDE6B TMED11P UVSSA LOC100129917 NKX1-1 SPON2 PCGF3 CPLX1 MAEA LOC100130872 MFSD7 CTBP1-AS MYL5 IDUA CTBP1 GAK
esv3569247 Chr4:1340902 - 1353008 on Build GRCh38 Loss UVSSA
nsv593278 Chr4:1165892 - 1421910 on Build GRCh38 Loss MAEA LOC100130872 UVSSA LOC101928548 CTBP1-AS NKX1-1 CTBP1 SPON2 CRIPAK CTBP1-AS2
nsv593301 Chr4:1306289 - 1358897 on Build GRCh38 Loss MAEA UVSSA
nsv593302 Chr4:1344830 - 1420896 on Build GRCh38 Loss UVSSA NKX1-1 CRIPAK
nsv508988 Chr4:1190955 - 1358870 on Build GRCh38 Insertion MAEA LOC100130872 UVSSA LOC101928548 CTBP1-AS CTBP1 SPON2 CTBP1-AS2
nsv593281 Chr4:1209477 - 1358897 on Build GRCh38 Loss MAEA UVSSA CTBP1-AS CTBP1 CTBP1-AS2

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