AutismKB 2.0

View CNVs/SVs


View by Evidence Type: CNVs Only Present In Patients ( 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
AutCNV0005145 7 7q22.3 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005146 2 2p16.3 loss - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005147 1 14q12 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005148 2 20p11.23 loss - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005149 Y Yp11.31 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005150 Y Yp11.2 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005151 4 4q28.3 loss - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005152 5 5q35.2 loss - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005153 8 8q22.1 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005154 1 1q43 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005155 X Xp22.33 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005157 5 - loss - - CNVs Only Present In Patients; de novo CNVs; Ba W, 2016
AutCNV0005158 8 8p22 gain - - CNVs Only Present In Patients; Pinto AM, 2015
AutCNV0005159 16 16p13.11 gain - - CNVs Only Present In Patients; Pinto AM, 2015
AutCNV0005160 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Smyk M, 2016
AutCNV0005161 16 16p13.11 gain 1 - CNVs Only Present In Patients; Brownstein CA, 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
AutCNV0005164 22 22q11.22 loss 1 - CNVs Only Present In Patients; Kaufman CS, 2016
AutCNV0005165 5 5p13.2 gain 2 - CNVs Only Present In Patients; van Amen-Hellebrekers CJ, 2016
AutCNV0005166 5 5p13.2 gain 2 - CNVs Only Present In Patients; van Amen-Hellebrekers CJ, 2016
AutCNV0005167 21 21q21.1q21.2 loss 1 - CNVs Only Present In Patients; Scholz C, 2016
AutCNV0005168 19 Xq11.1q11.2 gain 1 - CNVs Only Present In Patients; Nebel RA, 2015
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

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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