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
AutCNV0004857 16 16p11.2 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004858 16 16p11.2 loss - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004859 22 22q13.3 loss - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004860 22 22q13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Moreira DP, 2014
AutCNV0004861 22 22q13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Moreira DP, 2014
AutCNV0004862 2 2q13 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004863 15 15q11.2 loss - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004864 4 4q35.2 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004865 11 11p11.2 loss - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004866 7 7p11.2 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004867 17 17q11.2 loss - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004868 6 6q14.1-q15 loss - - CNVs Only Present In Patients; Quintela I, 2015
AutCNV0004869 X Xp22.31 gain - - CNVs Only Present In Patients; Quintela I, 2015
AutCNV0004870 16 16p13.11 loss 13 - CNVs Only Present In Patients; Gümü?lü KE, 2015
AutCNV0004871 16 16p11.2 loss 12 - CNVs Only Present In Patients; Gümü?lü KE, 2015
AutCNV0004872 1 1q21.1 loss 10 - CNVs Only Present In Patients; Gümü?lü KE, 2015
AutCNV0004873 2 2q21.1q21.2 loss 8 - CNVs Only Present In Patients; Gümü?lü KE, 2015
AutCNV0004874 8 8p23.1 loss 7 - CNVs Only Present In Patients; Gümü?lü KE, 2015
AutCNV0004875 7 7q36.3 loss 3 - CNVs Only Present In Patients; Gümü?lü KE, 2015
AutCNV0004876 2 2p21 loss 6 - CNVs Only Present In Patients; Gümü?lü KE, 2015
AutCNV0004877 16 16p13.3 loss 2 - CNVs Only Present In Patients; Overlapping/Recurrent CNVs; Gümü?lü KE, 2015
AutCNV0004878 X Xp11.2 loss - - CNVs Only Present In Patients; De Wolf V, 2014
AutCNV0004879 X Xp11.2 loss - - CNVs Only Present In Patients; De Wolf V, 2014
AutCNV0004880 X Xp11.2 loss - - CNVs Only Present In Patients; De Wolf V, 2014
AutCNV0004881 X Xp11.2 loss - - CNVs Only Present In Patients; De Wolf V, 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