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
AutCNV0004782 17 17q23.2 loss - - CNVs Only Present In Patients; Bonora E, 2014
AutCNV0004783 4 4p13p12 gain - - CNVs Only Present In Patients; Polan MB, 2014
AutCNV0004784 4 4p13p13 gain - - CNVs Only Present In Patients; Polan MB, 2014
AutCNV0004785 15 15q11q12 gain - - CNVs Only Present In Patients; de novo CNVs; Nava C, 2014
AutCNV0004786 9 9p24 loss - - CNVs Only Present In Patients; Nava C, 2014
AutCNV0004787 3 3q29 loss - - CNVs Only Present In Patients; de novo CNVs; Nava C, 2014
AutCNV0004788 16 16p11.2 gain - - CNVs Only Present In Patients; Nava C, 2014
AutCNV0004789 16 16p11.2 gain - - CNVs Only Present In Patients; de novo CNVs; Nava C, 2014
AutCNV0004790 16 16p11.2 gain - - CNVs Only Present In Patients; Nava C, 2014
AutCNV0004791 16 16p11.2 gain - - CNVs Only Present In Patients; Nava C, 2014
AutCNV0004792 2 2q36 loss - - CNVs Only Present In Patients; Nava C, 2014
AutCNV0004793 1 1p31.1 loss - - CNVs Only Present In Patients; Nava C, 2014
AutCNV0004794 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004795 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004796 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004797 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004798 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004799 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004800 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004801 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004802 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004803 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004804 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004805 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 2014
AutCNV0004806 2 2q23.1 gain - - CNVs Only Present In Patients; Mullegama SV, 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