AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( 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:All ( 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
AutCNV0005106 3 3q13.2q13.31 loss 1 - CNVs Only Present In Patients; de novo CNVs; Quintela I, 2015
AutCNV0005107 16 16p11.2 gain - - CNVs Only Present In Patients; de novo CNVs; Nava C, 2015
AutCNV0005113 6 6p21.32 gain - - CNVs Only Present In Patients; de novo CNVs; Kanduri C, 2016
AutCNV0005119 17 17q12 loss - - CNVs Only Present In Patients; de novo CNVs; Kanduri C, 2016
AutCNV0005124 3 3q29 loss - - CNVs Only Present In Patients; de novo CNVs; Biamino E, 2016
AutCNV0005125 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Stolerman ES, 2016
AutCNV0005138 16 16p11.2 gain - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016
AutCNV0005139 1 1q42.3 gain - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016
AutCNV0005140 3 3q24 gain - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016
AutCNV0005141 10 10q26.13 gain - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016
AutCNV0005142 4 4q13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Soueid J, 2016
AutCNV0005157 5 - loss - - CNVs Only Present In Patients; de novo CNVs; Ba W, 2016
AutCNV0005160 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Smyk M, 2016
AutCNV0005162 X Xq28 gain 1 - CNVs Only Present In Patients; de novo CNVs; Brownstein CA, 2016
AutCNV0005163 22 22q13.33 loss - - CNVs Only Present In Patients; de novo CNVs; Breckpot J, 2016
AutCNV0005512 7 7q11.22 loss - - de novo CNVs; Beunders G, 2013
AutCNV0005514 7 7q11.22 loss - - de novo CNVs; Beunders G, 2013
AutCNV0005601 14 14q12 gain 1 - CNVs Only Present In Patients; de novo CNVs; Castermans D, 2008
AutCNV0005602 2 2p25.3 gain 2 - CNVs Only Present In Patients; de novo CNVs; Meyer KJ, 2012
AutCNV0005621 3 3 loss - - de novo CNVs; Mercati O, 2017
AutCNV0005625 3 3 gain - - de novo CNVs; Mercati O, 2017
AutCNV0005630 17 17 - - - de novo CNVs; Krumm N, 2015
AutCNV0005632 16 16 - - - de novo CNVs; Krumm N, 2015
AutCNV0005635 15 15 - - - de novo CNVs; Krumm N, 2015
AutCNV0005636 21 21 - - - de novo CNVs; Krumm N, 2015

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Simple Query:


  (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