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:16 ( 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
AutCNV0000011 16 16p13.3 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000012 16 16p11.2 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000017 16 16p11.2 gain 11 7 Overlapping/Recurrent CNVs; de novo CNVs; Weiss, 2008
AutCNV0000018 16 16p11.2 loss 13 5 Overlapping/Recurrent CNVs; de novo CNVs; Weiss, 2008
AutCNV0000113 16 16p13.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000114 16 16p13.2 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000115 16 16q13 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000116 16 16q21 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000124 16 16q21 loss 2 - de novo CNVs; Szatmari, 2007
AutCNV0000151 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; de novo CNVs; Marshall, 2008
AutCNV0000152 16 16p11.2 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000153 16 16q24.3 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000183 16 16p12.2 gain 1 - Other; Marshall, 2008
AutCNV0000184 16 16p12.2 loss 1 - Other; Marshall, 2008
AutCNV0000185 16 16p11.2 gain 1 - Other; Marshall, 2008
AutCNV0000186 16 16p11.2 gain 1 - Other; de novo CNVs; Marshall, 2008
AutCNV0000187 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; Other; de novo CNVs; Marshall, 2008
AutCNV0000193 16 16p11.2 loss 4 0 Overlapping/Recurrent CNVs; Kumar, 2008
AutCNV0000196 16 16p13.1 gain 2 - Overlapping/Recurrent CNVs; Ullmann, 2007
AutCNV0000232 16 16p11.2 loss 3 - Overlapping/Recurrent CNVs; de novo CNVs; Christian, 2008
AutCNV0000233 16 16p11.2 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Christian, 2008
AutCNV0000234 16 16q22.1 gain 1 - de novo CNVs; Christian, 2008
AutCNV0000235 16 16q23.3 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000236 16 16q24.1 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000260 16 16p11.2 gain 2 - Overlapping/Recurrent CNVs; Finelli, 2004

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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