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
AutCNV0003552 4 4q35.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003553 5 5p15.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003554 5 5p15.2 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003555 5 5p15.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003556 5 5p14.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003557 5 5p13.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003558 5 5p13.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003559 5 5q21.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003560 5 5q21.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003561 5 5q23.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003562 5 5q23.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003563 5 5q23.1-23.2 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003564 5 5q33.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003565 5 5q33.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003566 5 5q33.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003567 5 5q35.3 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003568 6 6p22.3 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003569 6 6p22.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003570 6 6p22.1 loss 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003571 6 6q12 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003572 6 6q12 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003573 6 6q14.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003574 6 6q14.1 gain 1 - CNVs Only Present In Patients; Gai, 2011
AutCNV0003575 6 6q14.3 loss 2 - Overlapping/Recurrent CNVs; Gai, 2011
AutCNV0003576 6 6q15 gain 1 - CNVs Only Present In Patients; Gai, 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