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: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
AutCNV0005132 1 1q42.12 - - - CNVs Only Present In Patients; Shin S, 2015
AutCNV0005133 6 6q22.31 - - - CNVs Only Present In Patients; Shin S, 2015
AutCNV0005134 8 8p23.2 - - - CNVs Only Present In Patients; Shin S, 2015
AutCNV0005135 12 12p11.23 - - - CNVs Only Present In Patients; Shin S, 2015
AutCNV0005136 14 14q12 - - - CNVs Only Present In Patients; Shin S, 2015
AutCNV0005137 19 19p13.3 - - - CNVs Only Present In Patients; Shin S, 2015
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
AutCNV0005143 10 10q11.22 gain - - CNVs Only Present In Patients; Soueid J, 2016
AutCNV0005144 10 10q11.22 gain - - CNVs Only Present In Patients; Soueid J, 2016
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
AutCNV0005156 22 22q11 - - - Overlapping/Recurrent CNVs; Richard AC, 2016

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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