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: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
AutCNV0005095 1 1p34.2 loss - - CNVs Only Present In Patients; Lee MS, 2015
AutCNV0005096 15 15q11.2q13.1 gain 1 - CNVs Only Present In Patients; Riikonen RS, 2016
AutCNV0005097 X - - - - CNVs Only Present In Patients; T?nne E, 2015
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
AutCNV0005100 11 11q24.3q25 gain - - CNVs Only Present In Patients; Maruani A, 2015
AutCNV0005101 11 11p13 loss - - CNVs Only Present In Patients; Balay L, 2016
AutCNV0005102 11 11q22.3 gain - - CNVs Only Present In Patients; Balay L, 2016
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
AutCNV0005106 3 3q13.2q13.31 loss 1 - CNVs Only Present In Patients; de novo CNVs; Quintela I, 2015
AutCNV0005107 16 16p11.2 gain - - CNVs Only Present In Patients; de novo CNVs; Nava C, 2015
AutCNV0005108 8 - loss 1 1 CNVs Only Present In Patients; Nava C, 2015
AutCNV0005109 15 - loss 1 1 CNVs Only Present In Patients; Nava C, 2015
AutCNV0005110 1 1p13.3 gain - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005111 1 1q42.2 gain - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005112 3 3p14.2 loss - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005113 6 6p21.32 gain - - CNVs Only Present In Patients; de novo CNVs; Kanduri C, 2016
AutCNV0005114 14 14q12 gain - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005115 15 15q11.2 loss - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005116 15 15q11.2 gain - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005117 15 15q13.2q13.3 loss - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005118 16 16p13.3 gain - - CNVs Only Present In Patients; Kanduri C, 2016
AutCNV0005119 17 17q12 loss - - CNVs Only Present In Patients; de novo CNVs; Kanduri C, 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