AutismKB 2.0

View CNVs/SVs


View by Evidence Type: de novo CNVs ( 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
AutCNV0004912 7 7p21.1p22.2 gain - - CNVs Only Present In Patients; de novo CNVs; Udayakumar AM, 2015
AutCNV0004913 7 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004915 21 - - - - de novo CNVs; Tammimies K, 2015
AutCNV0004917 6 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004919 16 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004920 X - gain - - de novo CNVs; Tammimies K, 2015
AutCNV0004921 4 - - - - de novo CNVs; Tammimies K, 2015
AutCNV0004922 X - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004929 9 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004931 2 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
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
AutCNV0004935 17 - loss - - CNVs Only Present In Patients; de novo CNVs; Tammimies K, 2015
AutCNV0004950 13 - gain - - CNVs Only Present In Patients; de novo CNVs; Brand H, 2015
AutCNV0004967 3 3p14 loss - - CNVs Only Present In Patients; de novo CNVs; Okumura A, 2014
AutCNV0004969 16 16q24.1 loss 1 - CNVs Only Present In Patients; de novo CNVs; Smith AW, 2015
AutCNV0004970 11 11q13.3q13.4 loss - - CNVs Only Present In Patients; de novo CNVs; Leblond CS, 2014
AutCNV0004973 1 1q21.1 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 2015
AutCNV0004975 3 3q29 - - - CNVs Only Present In Patients; de novo CNVs; Sanders SJ, 2015
AutCNV0004976 7 7q11.23 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 2015
AutCNV0004977 7 7q11.23 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 2015
AutCNV0004978 7 7q11.23 - - - CNVs Only Present In Patients; de novo CNVs; Sanders SJ, 2015
AutCNV0004979 15 15q11.2-13.1 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 2015
AutCNV0004980 15 15q12 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 2015
AutCNV0004981 15 15q13.2-13.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 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