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
AutCNV0000291 15 15q22-23 loss 1 - CNVs Only Present In Patients; Smith, 2000
AutCNV0000292 15 15q25-26.3 gain 1 - CNVs Only Present In Patients; Bonati, 2005
AutCNV0000293 17 17p11.2 gain 1 - CNVs Only Present In Patients; Nakamine, 2008
AutCNV0000294 20 20pter-12.2 loss 1 - CNVs Only Present In Patients; Sauter, 2003
AutCNV0000295 20 20p11.22-11.23 loss 1 - CNVs Only Present In Patients; Michaelis, 1997
AutCNV0000297 15 15q11-12 gain 1 - CNVs Only Present In Patients; Mann, 2004
AutCNV0000298 15 15q11-12 gain 1 - CNVs Only Present In Patients; Mann, 2004
AutCNV0000315 1 1p35.1 loss 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000316 1 1q41 loss 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000317 2 2q33.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000318 3 3q21.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000319 3 3q22.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000320 4 4q26 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000321 5 5q35.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000322 7 7q11.22 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000323 7 7q31.33-32.1 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000324 11 11q14.1 loss 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000325 13 13q14.11 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000326 18 18q12.1 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000327 21 21q21.2 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000330 18 18q12.2 loss - - CNVs Only Present In Patients; Harvard, 2005
AutCNV0000331 1 1q23.3-24.2 loss 1 - CNVs Only Present In Patients; Monica, 2007
AutCNV0000346 1 1p36.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000347 1 1p36.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000348 1 1p32.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009

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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