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
AutCNV0004932 22 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004933 22 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004934 22 - gain - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004935 17 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004936 7 - gain - - CNVs Only Present In Patients; Tammimies K, 2015
AutCNV0004937 14 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004938 14 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004939 8 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004940 9 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004941 9 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004942 Y - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004943 3 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004944 1 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004945 4 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004946 13 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004947 13 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004948 3 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004949 15 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004950 13 - gain - - CNVs Only Present In Patients; de novo CNVs; Brand H, 2015
AutCNV0004951 8 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004952 8 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004953 19 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004954 1 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004955 1 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004956 2 - gain - - CNVs Only Present In Patients; Brand H, 2015

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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