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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
esv3584493 Chr.22:19954404 - 19991035 on Build GRCh38 Gain MIR4761 COMT ARVCF
nsv953026 Chr.22:19950978 - 20070877 on Build GRCh38 Deletion MIR4761 COMT MIR185 ARVCF TANGO2
nsv1055752 Chr.22:19960814 - 20013499 on Build GRCh38 Gain MIR4761 COMT ARVCF
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain MIR3618 MIR1286 TBX1 SEPT5 ARVCF LOC284865 COMT CLDN5 TXNRD2 GP1BB TRMT2A UFD1L SEPT5-GP1BB CCDC188 RANBP1 MIR6816 DGCR6L MIR185 MIR1306 TANGO2 MIR4761 LINC00895 LOC440792 GNB1L ZDHHC8 RTN4R CDC45 C22orf29 LOC101927859 LINC00896 DGCR8
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss MIR3618 MIR1286 TBX1 SEPT5 ARVCF LOC284865 COMT TXNRD2 GP1BB TRMT2A SEPT5-GP1BB CCDC188 RANBP1 MIR6816 DGCR6L MIR185 MIR1306 TANGO2 MIR4761 LOC440792 GNB1L ZDHHC8 RTN4R C22orf29 LINC00896 DGCR8
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain MIR3618 MIR1286 TBX1 SEPT5 ARVCF LOC284865 COMT TXNRD2 GP1BB TRMT2A SEPT5-GP1BB CCDC188 RANBP1 MIR6816 DGCR6L MIR185 MIR1306 TANGO2 MIR4761 LOC440792 GNB1L ZDHHC8 RTN4R C22orf29 LINC00896 DGCR8
nsv517165 Chr.22:19962905 - 19999679 on Build GRCh38 Loss MIR4761 COMT ARVCF
nsv469641 Chr.22:19891662 - 20067735 on Build GRCh38 Loss MIR4761 COMT TXNRD2 MIR185 ARVCF TANGO2
dgv72n68 Chr.22:19891663 - 20082447 on Build GRCh38 Loss MIR4761 COMT TXNRD2 MIR185 DGCR8 ARVCF TANGO2
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain MIR3618 MIR1286 CCDC188 RANBP1 MIR6816 DGCR6L TBX1 MIR185 ARVCF LOC284865 MIR1306 TANGO2 MIR4761 COMT LOC440792 GNB1L ZDHHC8 RTN4R TXNRD2 C22orf29 LINC00896 DGCR8 TRMT2A

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