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
AutCNV0004957 6 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004958 8 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004959 8 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004960 15 - gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004961 7 7p13q11.23 gain - - CNVs Only Present In Patients; Brand H, 2015
AutCNV0004962 22 22q11.22 loss 130 0 CNVs Only Present In Patients; Significant Enriched CNVs; Hadley D, 2014
AutCNV0004963 5 5q11.1 loss 70 8 CNVs Only Present In Patients; Significant Enriched CNVs; Hadley D, 2014
AutCNV0004964 15 15q12 gain 28 0 CNVs Only Present In Patients; Significant Enriched CNVs; Hadley D, 2014
AutCNV0004965 15 15q12 gain 27 1 CNVs Only Present In Patients; Significant Enriched CNVs; Hadley D, 2014
AutCNV0004966 15 15q13.1 gain 24 0 CNVs Only Present In Patients; Significant Enriched CNVs; Hadley D, 2014
AutCNV0004967 3 3p14 loss - - CNVs Only Present In Patients; de novo CNVs; Okumura A, 2014
AutCNV0004968 15 15q11.2 loss - - CNVs Only Present In Patients; Zhang Y, 2015
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
AutCNV0004971 15 - gain - - CNVs Only Present In Patients; Bacchelli E, 2015
AutCNV0004972 5 5q13.2 loss - - CNVs Only Present In Patients; Bacchelli E, 2015
AutCNV0004973 1 1q21.1 - - - CNVs Only Present In Patients; Significant Enriched CNVs; de novo CNVs; Sanders SJ, 2015
AutCNV0004974 2 2p16.3 - - - 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