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
AutCNV0000127 1 1q31 gain 1 - CNVs Only Present In Patients; Jacquemont, 2006
AutCNV0000131 5 5p15.2 loss 1 - CNVs Only Present In Patients; Jacquemont, 2006
AutCNV0000135 X Xq25 gain 1 - CNVs Only Present In Patients; Jacquemont, 2006
AutCNV0000195 3 3p26.3 gain 1 - CNVs Only Present In Patients; Roohi, 2009
AutCNV0000197 13 13q21.1-21.32 gain 1 - CNVs Only Present In Patients; Daniel, 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
AutCNV0000202 2 2p22.3 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000203 2 2p21 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000204 2 2p15 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000205 2 2q32.3 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000206 3 3p26.3 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000207 3 3p26.2 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000208 3 3p14.1 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000209 3 3q12.1 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000210 5 5q12.1 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000211 5 5q12.1 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000212 7 7p22.3 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000213 7 7p21.1 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000214 7 7q21.11 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000215 7 7q21.13 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000216 7 7q31.32 loss 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000217 8 8q11.23 gain 1 - CNVs Only Present In Patients; Christian, 2008
AutCNV0000218 10 10p13 loss 1 - CNVs Only Present In Patients; Christian, 2008

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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