AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( 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
AutCNV0000126 1 1p36 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000128 3 3q27.2-29 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000129 4 4q21 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000130 4 4q21-23 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000132 7 7q11 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000133 15 15q11-13 gain 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000134 21 21q22 loss 1 - de novo CNVs; Jacquemont, 2006
AutCNV0000136 1 1p21.3 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000137 2 2q32.1 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000138 3 3p14.1-13 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000139 3 3p25.1-24.3 loss 1 - de novo CNVs; Marshall, 2008
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
AutCNV0000142 7 7q31.1-31.31 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000143 7 7q31.1-32.2 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000144 7 7q36.2 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000145 8 8p23.3 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000146 12 12q24.21-24.33 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000147 12 12q12 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000148 15 15q11.2-13.3 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000149 15 15q11.2-13.3 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000150 15 15q23-24.2 loss 1 - de novo CNVs; Marshall, 2008
AutCNV0000151 16 16p11.2 loss 2 - Overlapping/Recurrent CNVs; de novo CNVs; Marshall, 2008
AutCNV0000152 16 16p11.2 gain 1 - de novo CNVs; Marshall, 2008
AutCNV0000153 16 16q24.3 loss 1 - de novo CNVs; Marshall, 2008

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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