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

Chr.22:19968835 on build GRCh38
Cytoband
22q11.21
Assay ID Hs02724965_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 1101

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 Exon 10
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
COMT NM_000754.3 6 1164 NP_000745.1
NM_001135161.1 6 1122 NP_001128633.1
NM_001135162.1 6 1139 NP_001128634.1
NM_007310.2 4 895 NP_009294.1
XM_011529886.1 6 1069 XP_011528188.1
XM_017028594.1 6 1388 XP_016884083.1
XM_017028595.1 6 1332 XP_016884084.1
AK130031.1 7 944
AK290440.1 6 1102
BC000419.2 6 1092 AAH00419.2
BC005867.2 6 1092 AAH05867.1
BC011935.2 5 1007 AAH11935.1
BC100018.1 6 1154 AAI00019.1
EF103918.1
EF212883.1
EF217321.1
EF217322.1
FJ224345.1 6 1092
M58525.1 6 1119 AAA68929.1
M65212.1 5 993 AAA68927.1
M65213.1 1 165 AAA68928.1

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 MIR4761 ARVCF COMT MIR185
esv3584493 Chr.22:19954404 - 19991035 on Build GRCh38 Gain MIR4761 ARVCF COMT
esv3893434 Chr.22:19470889 - 20343372 on Build GRCh38 Gain MIR1286 MIR4761 LOC284865 CCDC188 CLDN5 DGCR8 LINC00895 LINC00896 ZDHHC8 CDC45 COMT RANBP1 TBX1 TANGO2 UFD1L SEPT5-GP1BB TXNRD2 ARVCF SEPT5 MIR6816 GNB1L DGCR6L RTN4R LOC440792 MIR3618 MIR185 MIR1306 GP1BB C22orf29 TRMT2A LOC101927859
nsv1064496 Chr.22:19960814 - 19991035 on Build GRCh38 Gain MIR4761 ARVCF COMT
nsv828938 Chr.22:19691069 - 20324465 on Build GRCh38 Gain MIR1286 MIR4761 LOC284865 CCDC188 DGCR8 LINC00896 ZDHHC8 COMT RANBP1 TBX1 TANGO2 SEPT5-GP1BB TXNRD2 ARVCF SEPT5 MIR6816 GNB1L DGCR6L RTN4R LOC440792 MIR3618 MIR185 MIR1306 GP1BB C22orf29 TRMT2A
nsv828939 Chr.22:19696032 - 20324465 on Build GRCh38 Loss MIR1286 MIR4761 LOC284865 CCDC188 DGCR8 LINC00896 ZDHHC8 COMT RANBP1 TBX1 TANGO2 SEPT5-GP1BB TXNRD2 ARVCF SEPT5 MIR6816 GNB1L DGCR6L RTN4R LOC440792 MIR3618 MIR185 MIR1306 GP1BB C22orf29 TRMT2A
nsv469641 Chr.22:19891662 - 20067735 on Build GRCh38 Loss TANGO2 MIR4761 TXNRD2 ARVCF COMT MIR185
nsv517165 Chr.22:19962905 - 19999679 on Build GRCh38 Loss MIR4761 ARVCF COMT
dgv72n68 Chr.22:19891663 - 20082447 on Build GRCh38 Loss TANGO2 MIR4761 TXNRD2 ARVCF COMT MIR185 DGCR8
dgv7983n54 Chr.22:19762002 - 20321870 on Build GRCh38 Gain TBX1 TANGO2 MIR1286 MIR4761 TXNRD2 ARVCF LOC284865 CCDC188 MIR6816 GNB1L DGCR6L DGCR8 RTN4R LINC00896 ZDHHC8 LOC440792 MIR3618 COMT MIR185 MIR1306 C22orf29 TRMT2A RANBP1

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