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  )


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Notes: ACRD: Autism Chromosome Rearrangement Database
CNV Name Chr Band Gain/Loss Number of CNVs Evidence Type Reference
Case Control
AutCNV0005807 5 5p15.2 Gain - - Toma C, 2014
AutCNV0005808 6 6q24.3 Loss - - Toma C, 2014
AutCNV0005809 8 8p22 Loss - - Toma C, 2014
AutCNV0005810 1 1q24.3 gain - - Egger G, 2014
AutCNV0005811 1 1q31.3 Loss - - Egger G, 2014
AutCNV0005812 1 1q41 Gain - - Egger G, 2014
AutCNV0005813 2 2p25.1 Loss - - Egger G, 2014
AutCNV0005814 2 2p23.3 gain - - Egger G, 2014
AutCNV0005815 2 2q21.2 Loss - - Egger G, 2014
AutCNV0005816 3 3p25.3 Loss - - Egger G, 2014
AutCNV0005817 3 3p24.3 Loss - - Egger G, 2014
AutCNV0005818 3 3q21.1 Loss - - Egger G, 2014
AutCNV0005819 3 3q25.32 Gain - - Egger G, 2014
AutCNV0005820 3 3q28 Loss - - Egger G, 2014
AutCNV0005821 3 3q28 Gain - - Egger G, 2014
AutCNV0005822 3 3q28 Loss - - Egger G, 2014
AutCNV0005823 4 4p12 Loss - - Egger G, 2014
AutCNV0005824 5 5q12.3 Gain - - Egger G, 2014
AutCNV0005825 6 6p25.1 Loss - - Egger G, 2014
AutCNV0005826 6 "6p24.1,6p24.2" Loss - - Egger G, 2014
AutCNV0005827 6 6p22.3 Gain - - Egger G, 2014
AutCNV0005828 6 6q15 Gain - - Egger G, 2014
AutCNV0005829 7 7q11.22 Gain - - Egger G, 2014
AutCNV0005830 7 7q35 Loss - - Egger G, 2014
AutCNV0005831 7 7q36.2 Gain - - Egger G, 2014

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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