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
AutCNV0004807 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004808 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004809 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004810 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004811 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004812 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004813 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004814 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004815 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004816 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004817 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004818 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004819 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004820 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004821 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004822 19 19q13.33 gain - - CNVs Only Present In Patients; de novo CNVs; Mizuno M, 2015
AutCNV0004823 12 12p11.22p11.21 loss 1 - CNVs Only Present In Patients; Chen CP, 2014
AutCNV0004824 22 22q11.21 gain - - CNVs Only Present In Patients; Chen CP, 2014
AutCNV0004825 16 16q21 loss - - CNVs Only Present In Patients; de novo CNVs; Crepel A, 2014
AutCNV0004826 16 16p12.2p11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Okamoto N, 2014
AutCNV0004827 16 16p12.2p11.2 gain - - CNVs Only Present In Patients; de novo CNVs; Okamoto N, 2014
AutCNV0004828 7 7p22.1 gain 1 - CNVs Only Present In Patients; de novo CNVs; Goitia V, 2015
AutCNV0004829 X Xp22.32p22.2 loss 1 - CNVs Only Present In Patients; Margari L, 2014
AutCNV0004830 2 2p16.3 loss - - CNVs Only Present In Patients; Imitola J, 2014
AutCNV0004831 2 2p16.3 loss - - CNVs Only Present In Patients; Imitola J, 2014

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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