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
AutCNV0004907 3 3p26.3 gain - - CNVs Only Present In Patients; Hu J, 2015
AutCNV0004908 15 15q11.2 gain - - CNVs Only Present In Patients; de novo CNVs; Castronovo C, 2015
AutCNV0004909 15 15q11.213.1 gain - - CNVs Only Present In Patients; de novo CNVs; Castronovo C, 2015
AutCNV0004910 21 21q22.3 gain - - CNVs Only Present In Patients; Castronovo C, 2015
AutCNV0004911 15 15q13.3 loss - - CNVs Only Present In Patients; Overlapping/Recurrent CNVs; Lowther C, 2015
AutCNV0004912 7 7p21.1p22.2 gain - - CNVs Only Present In Patients; de novo CNVs; Udayakumar AM, 2015
AutCNV0004913 7 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004914 15 - gain - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004915 21 - - - - de novo CNVs; Tammimies K, 2015
AutCNV0004916 22 - loss - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004917 6 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004918 9 - loss - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004919 16 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004920 X - gain - - de novo CNVs; Tammimies K, 2015
AutCNV0004921 4 - - - - de novo CNVs; Tammimies K, 2015
AutCNV0004922 X - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004923 16 - gain - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004924 6 - loss - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004925 22 - loss - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004926 17 - gain - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004927 16 - loss - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004928 16 - gain - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004929 9 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004930 20 - loss - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004931 2 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015

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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