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
AutCNV0005007 2 2q22.2 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005008 3 3p26.3 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005009 14 14q32.33 loss - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005010 X Xp22.11 gain - - CNVs Only Present In Patients; Al-Mamari W, 2015
AutCNV0005011 7 7q32.1q32.3 loss - - 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
AutCNV0005013 3 3p26.1 loss - - CNVs Only Present In Patients; de novo CNVs; Liu Y, 2015
AutCNV0005014 1 1p31-q21 - - - CNVs Only Present In Patients; Ruthsatz J, 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
AutCNV0005020 2 2p16.3 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005021 2 2p16.3 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005022 2 2p16.3 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005023 2 2q21.1 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005024 7 7q35 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005025 16 16p11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005026 16 16p11.2 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005027 16 16p11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005028 16 16p11.2 gain - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005029 17 17p11.2 gain - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005030 17 17p13.3 gain - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005031 20 20p13.3 gain - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 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