AutismKB 2.0

View CNVs/SVs


View by Evidence Type: All ( CNVs Only Present In Patients   de novo CNVs   Overlapping/Recurrent CNVs  
                                        CNVs Overlapping With ACRD   CNVs Not Present In Control   Significant Enriched CNVs   Others  All  )


View by Chromosome:4 ( 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X  Y  All  )


Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0004427 4 4p14 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004449 4 4q21.21 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004456 4 4q25 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004477 4 4q28.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004498 4 4q34.2-34.3 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004526 4 4q31.21 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004529 4 4q22.1 loss - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004550 4 4q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004552 4 4q13.2 Loss 1 - de novo CNVs; Patircia, 2011
AutCNV0004581 4 4q13.2 Gain 1 - de novo CNVs; Patircia, 2011
AutCNV0004620 4 4q32-34 loss - - CNVs Only Present In Patients; de novo CNVs; Ramanathan, 2004
AutCNV0004623 4 4q21.21 loss - - CNVs Only Present In Patients; Davis, 2008
AutCNV0004652 4 - gain - - CNVs Only Present In Patients; Laplana M, 2014
AutCNV0004677 4 4q28.1 gain - - CNVs Only Present In Patients; de novo CNVs; Gazzellone MJ, 2014
AutCNV0004685 4 4q22.2 loss - - CNVs Only Present In Patients; Gazzellone MJ, 2014
AutCNV0004691 4 4p15.32 loss - - CNVs Only Present In Patients; Ceroni F, 2014
AutCNV0004783 4 4p13p12 gain - - CNVs Only Present In Patients; Polan MB, 2014
AutCNV0004784 4 4p13p13 gain - - CNVs Only Present In Patients; Polan MB, 2014
AutCNV0004864 4 4q35.2 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004921 4 - - - - de novo CNVs; Tammimies K, 2015
AutCNV0004945 4 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0005051 4 4p16.3 loss - - CNVs Only Present In Patients; Jiménez-Barrón LT, 2015
AutCNV0005142 4 4q13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016
AutCNV0005151 4 4q28.3 loss - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005623 4 4 gain - - CNVs Only Present In Patients; Mercati O, 2017

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018