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See other ARVCF CNV Assays ›
Gene Symbol
ARVCF
Assay Reference Genome
Location

Chr.22:19967645 on build GRCh38
Cytoband
22q11.21
Assay ID Hs04506562_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 421

Gene Name:

 armadillo repeat gene deleted in velocardiofacial syndrome

Gene Aliases:

 -

Location:

 Chr.22:19966491-20016802 on Build GRCh38

Assay Gene Location:

 Within Intron 24
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ARVCF XM_005261242.2 XP_005261299.1
XM_006724243.2 XP_006724306.1
XM_006724246.3 XP_006724309.1
XM_011530179.2 XP_011528481.1
XM_011530182.2 XP_011528484.1
AL390148.1 1 2291

Target Gene Details

Entrez Gene ID:

 1312

Gene Name:

 catechol-O-methyltransferase

Gene Aliases:

 HEL-S-98n

Location:

 Chr.22:19941740-19969975 on Build GRCh38

Assay Gene Location:

 Within Intron 9
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COMT NM_000754.3 NP_000745.1
NM_001135161.1 NP_001128633.1
NM_001135162.1 NP_001128634.1
NM_007310.2 NP_009294.1
XM_011529886.1 XP_011528188.1
XM_017028594.1 XP_016884083.1
XM_017028595.1 XP_016884084.1
AK130031.1
AK290440.1
BC000419.2 AAH00419.2
BC005867.2 AAH05867.1
BC011935.2 AAH11935.1
BC100018.1 AAI00019.1
CR456422.1 CAG30308.1
CR456997.1 CAG33278.1
EF103918.1
EF212883.1
EF217321.1
EF217322.1
FJ224345.1
FJ410131.1
FJ410132.1
M58525.1 AAA68929.1
M65212.1 AAA68927.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv953026 Chr.22:19950978 - 20070877 on Build GRCh38 Deletion TANGO2 COMT ARVCF MIR4761 MIR185
esv3584493 Chr.22:19954404 - 19991035 on Build GRCh38 Gain COMT ARVCF MIR4761
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain COMT MIR1286 LINC00895 TBX1 LOC440792 TRMT2A RTN4R GP1BB MIR4761 MIR6816 LINC00896 CDC45 TXNRD2 ZDHHC8 CCDC188 MIR3618 SEPT5 LOC101927859 RANBP1 GNB1L UFD1L TANGO2 LOC284865 DGCR8 DGCR6L CLDN5 ARVCF MIR1306 SEPT5-GP1BB C22orf29 MIR185
nsv1064496 Chr.22:19960814 - 19991035 on Build GRCh38 Gain COMT ARVCF MIR4761
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain COMT MIR1286 TBX1 LOC440792 TRMT2A RTN4R GP1BB MIR4761 MIR6816 LINC00896 TXNRD2 ZDHHC8 CCDC188 MIR3618 SEPT5 RANBP1 GNB1L TANGO2 LOC284865 DGCR8 DGCR6L ARVCF MIR1306 SEPT5-GP1BB C22orf29 MIR185
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss COMT MIR1286 TBX1 LOC440792 TRMT2A RTN4R GP1BB MIR4761 MIR6816 LINC00896 TXNRD2 ZDHHC8 CCDC188 MIR3618 SEPT5 RANBP1 GNB1L TANGO2 LOC284865 DGCR8 DGCR6L ARVCF MIR1306 SEPT5-GP1BB C22orf29 MIR185
nsv469641 Chr.22:19891662 - 20067735 on Build GRCh38 Loss TANGO2 COMT ARVCF MIR4761 TXNRD2 MIR185
nsv517165 Chr.22:19962905 - 19999679 on Build GRCh38 Loss COMT ARVCF MIR4761
dgv72n68 Chr.22:19891663 - 20082447 on Build GRCh38 Loss TANGO2 DGCR8 COMT ARVCF MIR4761 TXNRD2 MIR185
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain MIR3618 COMT MIR1286 TBX1 RANBP1 LOC440792 GNB1L TANGO2 LOC284865 TRMT2A DGCR8 RTN4R DGCR6L ARVCF MIR1306 MIR4761 MIR6816 C22orf29 LINC00896 TXNRD2 ZDHHC8 CCDC188 MIR185

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