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:1 ( 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
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
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
AutCNV0000349 1 1q21.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0003119 1 1p36.32-36.33 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003120 1 1p36.32 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003121 1 1p32.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003122 1 1p21.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003123 1 1q21.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003125 1 1q24.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003126 1 1q31.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003127 1 1q31.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003128 1 1q31.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003130 1 1q43 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003131 1 1q44 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003132 1 1q44 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003452 1 1p36.32 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003453 1 1p35.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003454 1 1p35.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003455 1 1p34.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003456 1 1p34.2 gain 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