AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( 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
AutCNV0004982 16 16p11.2 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 2015
AutCNV0004983 16 16q23.3 - - - CNVs Only Present In Patients; de novo CNVs; Sanders SJ, 2015
AutCNV0004984 22 22q11.21 - - - CNVs Only Present In Patients; de novo CNVs; Sanders SJ, 2015
AutCNV0004985 14 14q11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Drabova J, 2015
AutCNV0004986 - - - - - CNVs Only Present In Patients; de novo CNVs; Fukai R, 2015
AutCNV0004987 7 7q11.22 - - - CNVs Only Present In Patients; de novo CNVs; Liu Y, 2015
AutCNV0004988 22 22q11.21 loss - - CNVs Only Present In Patients; de novo CNVs; Al-Mamari W, 2015
AutCNV0004996 7 7p22.2p21.1 gain - - CNVs Only Present In Patients; de novo CNVs; Al-Mamari W, 2015
AutCNV0005002 7 7q11.23 loss - - CNVs Only Present In Patients; de novo CNVs; Al-Mamari W, 2015
AutCNV0005003 3 q27.3q29 gain - - CNVs Only Present In Patients; de novo CNVs; 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
AutCNV0005025 16 16p11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005027 16 16p11.2 loss - - CNVs Only Present In Patients; de novo CNVs; 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
AutCNV0005033 22 22q13.33 loss - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005043 2 2q33.3q34 loss - - CNVs Only Present In Patients; de novo CNVs; Jang DH, 2015
AutCNV0005054 16 16p11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Duyzend MH, 2016
AutCNV0005098 8 8q22.2q22.3 loss 1 - CNVs Only Present In Patients; de novo CNVs; Sinajon P, 2015
AutCNV0005099 11 11q24.2q25 loss - - CNVs Only Present In Patients; de novo CNVs; Maruani A, 2015
AutCNV0005103 7 7q11.22 loss 3 - CNVs Only Present In Patients; de novo CNVs; Fan Y, 2016
AutCNV0005104 7 7q11.22q11.23 loss 3 - CNVs Only Present In Patients; de novo CNVs; Fan Y, 2016
AutCNV0005105 7 - loss 3 - CNVs Only Present In Patients; de novo CNVs; Fan Y, 2016

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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