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
AutCNV0004402 2 2q37.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004403 2 2q37.3 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004404 5 5q14.3 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004405 12 12q12 loss 1 - Overlapping/Recurrent CNVs; Sanders, 2011
AutCNV0004406 16 16q23.2 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004407 17 17q21.2 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004408 X Xq13.1 loss 1 - CNVs Only Present In Patients; Sanders, 2011
AutCNV0004409 11 11p15.4 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004410 4 4q21.1 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004411 21 21q22.3 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004412 18 18q11.2 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004413 13 13q21.31 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004414 7 7q21.11 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004415 7 7p14.3 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004416 6 6q14.1 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004417 5 5q21.1 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004418 20 20p13 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004419 17 17p13.3 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004420 17 17p13.3 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004421 18 18q22.1 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004422 X Xp11.22 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004423 18 18q23 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004424 11 11q22.1 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004425 19 19q13.11 gain - - CNVs Only Present In Patients; Nord, 2011
AutCNV0004426 4 4q13.3 gain - - CNVs Only Present In Patients; Nord, 2011

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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