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
AutCNV0001927 9 9p23 loss 1 - Pinto, 2010
AutCNV0001928 9 9p23 loss 1 - Pinto, 2010
AutCNV0001929 9 9p23 loss 1 - Pinto, 2010
AutCNV0001930 9 9p23 loss 1 - Pinto, 2010
AutCNV0001931 9 9p23 loss 1 - Pinto, 2010
AutCNV0001932 9 9p23 loss 1 - Pinto, 2010
AutCNV0001933 9 9p22.2 loss 1 - Pinto, 2010
AutCNV0001934 9 9p22.2 loss 1 - Pinto, 2010
AutCNV0001935 9 9p21.3 loss 1 - Pinto, 2010
AutCNV0001936 9 9p21.3 loss 1 - Pinto, 2010
AutCNV0001937 9 9p21.3 loss 1 - Pinto, 2010
AutCNV0001938 9 9p21.3 loss 1 - Pinto, 2010
AutCNV0001939 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0001940 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0001941 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0001942 9 9p21.1 gain 1 - Pinto, 2010
AutCNV0001943 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0001944 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0001945 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0001946 9 9p21.1 loss 1 - Pinto, 2010
AutCNV0001947 9 9p12-13.1 loss 1 - Pinto, 2010
AutCNV0001948 9 9p12-13.1 loss 1 - Pinto, 2010
AutCNV0001949 9 9p11.2-13.1 gain 1 - Pinto, 2010
AutCNV0001950 9 9q21.11 gain 1 - Pinto, 2010
AutCNV0001951 9 9q21.11-21.12 loss 1 - Pinto, 2010

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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