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
AutCNV0004682 X Xp21.1 loss - - CNVs Only Present In Patients; de novo CNVs; Gazzellone MJ, 2014
AutCNV0004683 X Xp21.1 loss - - CNVs Only Present In Patients; de novo CNVs; Gazzellone MJ, 2014
AutCNV0004684 X Xq13.2 loss - - CNVs Only Present In Patients; de novo CNVs; Gazzellone MJ, 2014
AutCNV0004685 4 4q22.2 loss - - CNVs Only Present In Patients; Gazzellone MJ, 2014
AutCNV0004686 9 9p21.1 loss - - CNVs Only Present In Patients; Gazzellone MJ, 2014
AutCNV0004687 9 9p21.1 loss - - CNVs Only Present In Patients; Gazzellone MJ, 2014
AutCNV0004688 10 10p12.33 loss - - CNVs Only Present In Patients; Gazzellone MJ, 2014
AutCNV0004689 2 2q13 gain - - CNVs Only Present In Patients; de novo CNVs; Yasuda Y, 2014
AutCNV0004690 2 2q13 gain - - CNVs Only Present In Patients; de novo CNVs; Yasuda Y, 2014
AutCNV0004691 4 4p15.32 loss - - CNVs Only Present In Patients; Ceroni F, 2014
AutCNV0004692 7 7q11.22 loss - - CNVs Only Present In Patients; de novo CNVs; Amarillo IE, 2014
AutCNV0004693 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004694 9 9q33.1 gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004695 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004696 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004697 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004698 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004699 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004700 9 9q33.1 gain - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004701 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004702 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004703 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004704 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004705 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 2014
AutCNV0004706 9 9q33.1 loss - - CNVs Only Present In Patients; Lionel AC, 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