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
AutCNV0005602 2 2p25.3 gain 2 - CNVs Only Present In Patients; de novo CNVs; Meyer KJ, 2012
AutCNV0005619 11 11q21q22.1 loss - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005620 11 11 - - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005621 3 3 loss - - de novo CNVs; Mercati O, 2017
AutCNV0005622 2 2 gain - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005623 4 4 gain - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005624 6 6 loss - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005625 3 3 gain - - de novo CNVs; Mercati O, 2017
AutCNV0005626 X X loss - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005627 15 15 gain - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005628 10 10 gain - - CNVs Only Present In Patients; Mercati O, 2017
AutCNV0005629 16 16 - - - CNVs Only Present In Patients; Krumm N, 2015
AutCNV0005630 17 17 - - - de novo CNVs; Krumm N, 2015
AutCNV0005631 17 17 - - - CNVs Only Present In Patients; Krumm N, 2015
AutCNV0005632 16 16 - - - de novo CNVs; Krumm N, 2015
AutCNV0005633 11 11 - - - CNVs Only Present In Patients; Krumm N, 2015
AutCNV0005634 19 19 - - - CNVs Only Present In Patients; Krumm N, 2015
AutCNV0005635 15 15 - - - de novo CNVs; Krumm N, 2015
AutCNV0005636 21 21 - - - de novo CNVs; Krumm N, 2015
AutCNV0005637 20 20 - - - de novo CNVs; Krumm N, 2015
AutCNV0005638 18 18 - - - de novo CNVs; Krumm N, 2015
AutCNV0005639 10 10 - - - de novo CNVs; Krumm N, 2015
AutCNV0005640 20 20 - - - de novo CNVs; Krumm N, 2015
AutCNV0005641 X X - - - de novo CNVs; Krumm N, 2015
AutCNV0005642 11 11 - - - CNVs Only Present In Patients; Krumm N, 2015

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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