AutismKB 2.0

View CNVs/SVs


View by Evidence Type: CNVs Only Present In Patients ( 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:X ( 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
AutCNV0004869 X Xp22.31 gain - - CNVs Only Present In Patients; Quintela I, 2015
AutCNV0004878 X Xp11.2 loss - - CNVs Only Present In Patients; De Wolf V, 2014
AutCNV0004879 X Xp11.2 loss - - CNVs Only Present In Patients; De Wolf V, 2014
AutCNV0004880 X Xp11.2 loss - - CNVs Only Present In Patients; De Wolf V, 2014
AutCNV0004881 X Xp11.2 loss - - CNVs Only Present In Patients; De Wolf V, 2014
AutCNV0004922 X - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004990 X Xq21.31 loss - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0004991 X Xp22.13 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005010 X Xp22.11 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005012 X Xp11.22 loss - - CNVs Only Present In Patients; de novo CNVs; Fieremans N, 2015
AutCNV0005015 X Xp22.13 gain - - CNVs Only Present In Patients; Szafranski P, 2015
AutCNV0005016 X Xp22.13 gain - - CNVs Only Present In Patients; Szafranski P, 2015
AutCNV0005017 X Xp22.13 gain - - CNVs Only Present In Patients; Szafranski P, 2015
AutCNV0005018 X Xp22.13 gain - - CNVs Only Present In Patients; Szafranski P, 2015
AutCNV0005019 X Xp22.13 gain - - CNVs Only Present In Patients; Szafranski P, 2015
AutCNV0005041 X Xq13.3 gain - - CNVs Only Present In Patients; Charzewska A, 2015
AutCNV0005065 X - loss - - CNVs Only Present In Patients; Addis L, 2015
AutCNV0005066 X - loss - - CNVs Only Present In Patients; Chaudhry A, 2015
AutCNV0005067 X - loss - - CNVs Only Present In Patients; Chaudhry A, 2015
AutCNV0005068 X - loss - - CNVs Only Present In Patients; Chaudhry A, 2015
AutCNV0005069 X - loss - - CNVs Only Present In Patients; Chaudhry A, 2015
AutCNV0005070 X - loss - - CNVs Only Present In Patients; Chaudhry A, 2015
AutCNV0005071 X - loss - - CNVs Only Present In Patients; Chaudhry A, 2015
AutCNV0005072 X - loss - - CNVs Only Present In Patients; Chaudhry A, 2015
AutCNV0005073 X - loss - - CNVs Only Present In Patients; Chaudhry A, 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