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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0000001 2 2q24.2 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000002 2 2q37.2-q37.3 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000003 2 2q37.3 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000004 3 3p14.2 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000005 3 3p14.2 gain 1 - de novo CNVs; Sebat, 2007
AutCNV0000006 6 6p23 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000007 7 7q21.1 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000008 10 10q11.23-21.2 gain 1 - de novo CNVs; Sebat, 2007
AutCNV0000009 13 13q14.12-14.13 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000010 15 15q11-13.33 gain 1 - de novo CNVs; Sebat, 2007
AutCNV0000011 16 16p13.3 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000012 16 16p11.2 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000013 20 20p13 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000014 20 20p13 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000015 22 22q13.31-13.33 loss 1 - de novo CNVs; Sebat, 2007
AutCNV0000016 15 15q11-13 gain 5 - Overlapping/Recurrent CNVs; de novo CNVs; Weiss, 2008
AutCNV0000017 16 16p11.2 gain 11 7 Overlapping/Recurrent CNVs; de novo CNVs; Weiss, 2008
AutCNV0000018 16 16p11.2 loss 13 5 Overlapping/Recurrent CNVs; de novo CNVs; Weiss, 2008
AutCNV0000019 4 4p15.32-16.3 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000020 5 5p15.1-15.2 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000021 6 6q16.3-21 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000022 7 7q21.12-21.13 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000023 8 8p23.1-23.3 loss 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000024 15 15q11.2 gain 1 - CNVs Overlapping With ACRD; Szatmari, 2007
AutCNV0000025 15 15q11.2-12 gain 6 - CNVs Overlapping With ACRD; Szatmari, 2007

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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