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
AutCNV0005032 22 22q13.31q13.33 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005033 22 22q13.33 loss - - CNVs Only Present In Patients; de novo CNVs; Eriksson MA, 2015
AutCNV0005034 9 9p24.2 gain - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005035 9 9q33.1 loss - - CNVs Only Present In Patients; Eriksson MA, 2015
AutCNV0005036 16 16p11.2 loss - - CNVs Only Present In Patients; Berman JI, 2015
AutCNV0005037 3 3q29 loss - - CNVs Only Present In Patients; Cox DM, 2015
AutCNV0005038 8 8q24.3 loss - - CNVs Only Present In Patients; Hu J, 2015
AutCNV0005039 14 14q23.3 loss - - CNVs Only Present In Patients; Hu J, 2015
AutCNV0005040 3 3q24 loss - - CNVs Only Present In Patients; Cardon M, 2016
AutCNV0005041 X Xq13.3 gain - - CNVs Only Present In Patients; Charzewska A, 2015
AutCNV0005042 - - - - - CNVs Only Present In Patients; Polyak A, 2015
AutCNV0005043 2 2q33.3q34 loss - - CNVs Only Present In Patients; de novo CNVs; Jang DH, 2015
AutCNV0005044 22 22q13.3 loss - - CNVs Only Present In Patients; Philippe A, 2015
AutCNV0005045 7 7q35 loss - - CNVs Only Present In Patients; Rodenas-Cuadrado P, 2016
AutCNV0005046 7 - loss - - CNVs Only Present In Patients; Rodenas-Cuadrado P, 2016
AutCNV0005047 12 12p13.33 - - - CNVs Only Present In Patients; Hashemi B, 2015
AutCNV0005048 17 17p13.3 - - - CNVs Only Present In Patients; Hashemi B, 2015
AutCNV0005049 16 16p12.3 loss - - CNVs Only Present In Patients; Jiménez-Barrón LT, 2015
AutCNV0005050 3 3q22.1 loss - - CNVs Only Present In Patients; Jiménez-Barrón LT, 2015
AutCNV0005051 4 4p16.3 loss - - CNVs Only Present In Patients; Jiménez-Barrón LT, 2015
AutCNV0005052 16 16p11.2 loss - - CNVs Only Present In Patients; Duyzend MH, 2016
AutCNV0005053 16 16p11.2 gain - - CNVs Only Present In Patients; Duyzend MH, 2016
AutCNV0005054 16 16p11.2 loss - - CNVs Only Present In Patients; de novo CNVs; Duyzend MH, 2016
AutCNV0005055 11 - - - - CNVs Only Present In Patients; Addis L, 2015
AutCNV0005056 11 - - - - CNVs Only Present In Patients; Addis L, 2015

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  (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