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
AutCNV0004832 2 2p16.3 loss - - CNVs Only Present In Patients; Imitola J, 2014
AutCNV0004833 2 2p16.3 loss - - CNVs Only Present In Patients; Imitola J, 2014
AutCNV0004834 17 17q21.31 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004835 X Xp11.4 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004836 17 17q21.31 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004837 1 1q24.3 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004838 16 16p13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004839 12 12q24.23 gain - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004840 5 5p15.2 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004841 10 10p14 gain - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004842 12 12q24.33 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004843 16 16p13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004844 2 2q33.1 gain - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004845 20 20q13.32 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004846 12 12q24.21 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004847 17 17p13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Asadollahi R, 2014
AutCNV0004848 15 15q13.3 gain - - Beal JC, 2014
AutCNV0004849 7 - loss 1 - CNVs Only Present In Patients; Ceroni F, 2014
AutCNV0004850 7 - loss - - CNVs Only Present In Patients; Ceroni F, 2014
AutCNV0004851 15 15q13.2-q13.3 loss - - CNVs Only Present In Patients; de novo CNVs; Moreira DP, 2014
AutCNV0004852 15 15q13.3 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004853 15 15q13.3 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004854 16 16p11.2 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004855 16 16p11.2 gain - - CNVs Only Present In Patients; Moreira DP, 2014
AutCNV0004856 16 16p11.2 gain - - CNVs Only Present In Patients; de novo CNVs; Moreira DP, 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