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
AutCNV0000977 1 1p36.22 gain 1 - Pinto, 2010
AutCNV0000978 1 1p36.13 gain 1 - Pinto, 2010
AutCNV0000979 1 1p34.1 gain 1 - Pinto, 2010
AutCNV0000980 1 1p33 loss 1 - Pinto, 2010
AutCNV0000981 1 1p33 loss 1 - Pinto, 2010
AutCNV0000982 1 1p33 loss 1 - Pinto, 2010
AutCNV0000983 1 1p33 loss 1 - Pinto, 2010
AutCNV0000984 1 1p31.3 gain 1 - Pinto, 2010
AutCNV0000985 1 1p31.1 loss 1 - Pinto, 2010
AutCNV0000986 1 1p13.2 gain 1 - Pinto, 2010
AutCNV0000987 1 1q21.1 gain 1 - Pinto, 2010
AutCNV0000988 1 1q21.1 loss 1 - Pinto, 2010
AutCNV0000989 1 1q31.3 loss 1 - Pinto, 2010
AutCNV0000990 1 1q31.3 loss 1 - Pinto, 2010
AutCNV0000991 1 1q31.3 loss 1 - Pinto, 2010
AutCNV0000992 1 1q44 gain 1 - Pinto, 2010
AutCNV0000993 2 2p23.1 loss 1 - Pinto, 2010
AutCNV0000994 2 2p22.1 gain 1 - Pinto, 2010
AutCNV0000995 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0000996 2 2p16.3 loss 1 - Pinto, 2010
AutCNV0000997 2 2p12 loss 1 - Pinto, 2010
AutCNV0000998 2 2p12 loss 1 - Pinto, 2010
AutCNV0000999 2 2p11.2 loss 1 - Pinto, 2010
AutCNV0001000 2 2p11.2 gain 1 - Pinto, 2010
AutCNV0001001 2 2p11.2 gain 1 - Pinto, 2010

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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


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