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:4 ( 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
AutCNV0000254 4 4q31.3-33 loss 1 - CNVs Only Present In Patients; Ramanathan, 2004
AutCNV0000263 4 4p12-13 gain 1 - CNVs Only Present In Patients; Sabaratnam, 2000
AutCNV0000320 4 4q26 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000703 4 4q12 Loss null null CNVs Only Present In Patients; CNVs Not Present In Control; Berkel, 2010
AutCNV0003186 4 4p16.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003187 4 4p15.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003189 4 4p15.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003190 4 4p15.33 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003191 4 4p15.33 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003192 4 4p15.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003194 4 4q25 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003195 4 4q31.23 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003196 4 4q32.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003198 4 4q34.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003199 4 4q34.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003201 4 4q35.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003539 4 4p16.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003540 4 4p14-15.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003541 4 4q12 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003542 4 4q13.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003543 4 4q21.21 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003545 4 4q28.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003546 4 4q28.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003548 4 4q32.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003549 4 4q32.2 loss 1 - CNVs Only Present In Patients; Gai, 2011

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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