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
AutCNV0000327 21 21q21.2 gain 1 - CNVs Only Present In Patients; Cusco, 2008
AutCNV0000328 3 3p24.3-25 loss 1 - de novo CNVs; Harvard, 2005
AutCNV0000329 5 5p15.2 loss - - de novo CNVs; Harvard, 2005
AutCNV0000330 18 18q12.2 loss - - CNVs Only Present In Patients; Harvard, 2005
AutCNV0000331 1 1q23.3-24.2 loss 1 - CNVs Only Present In Patients; Monica, 2007
AutCNV0000332 1 1p36 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000333 1 1q44 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000334 2 2p16 loss 5 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000335 2 2q23.3 loss 4 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000336 3 3p14 loss 2 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000337 6 6p12 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000338 7 7q31.3 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000339 11 11q13 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000340 11 11q13 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000341 14 14q21.3 loss 8 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000342 15 15q11.2 loss 26 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000343 16 16p13 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000344 17 17q22 loss 6 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000345 19 19p13 loss 3 - CNVs Not Present In Control; de novo CNVs; Bucan, 2009
AutCNV0000346 1 1p36.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000347 1 1p36.33 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000348 1 1p32.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000349 1 1q21.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000350 2 2q21.1 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009
AutCNV0000351 3 3p24.3 - - - CNVs Only Present In Patients; Significant Enriched CNVs; Zwaag, 2009

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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