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:5 ( 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
AutCNV0000020 5 5p15.1-15.2 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000036 5 5p14.1 loss 3 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000037 5 5q13.3 loss 2 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000070 5 5p13.1 gain 1 - Overlapping/Recurrent CNVs; Szatmari, 2007
AutCNV0000131 5 5p15.2 loss 1 - CNVs Only Present In Patients; Jacquemont, 2006
AutCNV0000140 5 5p15.33-15.2 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000141 5 5p15.31-15.2 loss 1 - de novo CNVs; Marshall, 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
AutCNV0000289 5 5p14.2-15.1 gain 1 - CNVs Only Present In Patients; Keller, 2003
AutCNV0000321 5 5q35.3 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000329 5 5p15.2 loss - - de novo CNVs; Harvard, 2005
AutCNV0000353 5 5q11.1 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000485 5 5q31.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000486 5 5q35.3 Loss 1 - Overlapping/Recurrent CNVs; Gregory, 2009
AutCNV0000661 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; Novara, 2010
AutCNV0000662 5 5q14.3 loss 1 - Overlapping/Recurrent CNVs; de novo CNVs; Novara, 2010
AutCNV0000706 5 5q14.3 loss 1 - CNVs Only Present In Patients; Ezugha, 2010
AutCNV0000774 5 5p12 loss 1 - Pinto, 2010
AutCNV0000775 5 5q23.1 gain 1 - Pinto, 2010
AutCNV0000786 5 5p14.3 loss 1 - Pinto, 2010
AutCNV0000854 5 5q21.3 gain 1 - Pinto, 2010
AutCNV0000877 5 5p15.2 loss 1 - Pinto, 2010
AutCNV0000878 5 5p15.1 loss 1 - Pinto, 2010
AutCNV0000879 5 5p14.1 loss 1 - Pinto, 2010

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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