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
AutCNV0000176 9 9p24.1 loss 1 - Other; Marshall, 2008
AutCNV0000177 11 11p12 loss 1 - Other; Marshall, 2008
AutCNV0000178 11 11p12 loss 1 - Other; Marshall, 2008
AutCNV0000179 13 13q21.32 gain 1 - Other; Marshall, 2008
AutCNV0000180 13 13q21.32 gain 1 - Other; Marshall, 2008
AutCNV0000181 15 15q11.2-q13.3 gain 1 - Other; 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
AutCNV0000188 22 22q11.2 loss 1 - Other; Marshall, 2008
AutCNV0000189 22 22q11.2 gain 2 - Overlapping/Recurrent CNVs; Other; de novo CNVs; Marshall, 2008
AutCNV0000190 22 22q11.2 gain 1 - Other; Marshall, 2008
AutCNV0000191 22 22q13.31 gain 1 - Other; Marshall, 2008
AutCNV0000192 22 22q13.31 loss 1 - Other; Marshall, 2008
AutCNV0000193 16 16p11.2 loss 4 0 Overlapping/Recurrent CNVs; Kumar, 2008
AutCNV0000194 3 3p26.3 loss 2 - Overlapping/Recurrent CNVs; Roohi, 2009
AutCNV0000195 3 3p26.3 gain 1 - CNVs Only Present In Patients; Roohi, 2009
AutCNV0000196 16 16p13.1 gain 2 - Overlapping/Recurrent CNVs; Ullmann, 2007
AutCNV0000197 13 13q21.1-21.32 gain 1 - CNVs Only Present In Patients; Daniel, 2007
AutCNV0000198 10 10q22.3-23.3 loss 1 - Overlapping/Recurrent CNVs; Balciuniene, 2007
AutCNV0000199 17 17p11.2 gain 1 - CNVs Only Present In Patients; Potocki, 2007
AutCNV0000200 2 2p25.3 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000201 2 2p24.2 gain 1 - CNVs Only Present In Patients; Christian, 2008

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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