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

Chr.22:19970528 on build GRCh38
Cytoband
22q11.21
Assay ID Hs00501898_cn
Size
Availability Made To Order
Catalog # 4400291
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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 Exon 24
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
ARVCF NM_001670.2 20 3387 NP_001661.1
XM_005261242.2 XP_005261299.1
XM_005261243.3 19 3385 XP_005261300.1
XM_005261244.3 18 3265 XP_005261301.1
XM_006724243.2 XP_006724306.1
XM_006724245.2 19 3283 XP_006724308.1
XM_006724246.3 XP_006724309.1
XM_006724247.3 18 3047 XP_006724310.1
XM_006724248.3 17 3028 XP_006724311.1
XM_011530179.2 XP_011528481.1
XM_011530182.2 XP_011528484.1
XM_011530183.2 12 2247 XP_011528485.1
AK092664.1 12 1714 BAC03941.1
BC137436.1
U51269.1 20 3388 AAC51202.1

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

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More Information


Additional Information:

For this assay, SNP(s) [rs73150820] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Set Membership:

 Intragenic Exonic DGV Variation

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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