6q22.33CNV Type: Deletion-Duplication
Largest CNV size: 113574 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
177793
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
91576
2
1
3
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
46726
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
9839
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
124000
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
46000
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
72895
1
0
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
113574
10
1
11
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
26273
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
143072
3
1
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
308003
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
7862
5
0
5
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
26273
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-case1-0513-003
N/A
M
ASD
Case from MSSNG cohort
127930878
128108670
177793
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14044_770
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
127812451
127904027
91577
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14082_1440
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
128948267
129011446
63180
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4363_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
127312814
127397917
85104
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case528-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
127286410
127333136
46727
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case12695.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
127709984
127719823
9840
GRCh38
Duplication
Yes
napoli_17_ASD_discovery_cases-case38
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
129261214
129385642
124429
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam962Proband10755
N/A
M
ASD
Additional clinical profile info N/A
ID
127719531
127766027
46497
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-339
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
128154946
128227840
72895
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
128507123
128508091
969
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11353.p1
5.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 77; verbal IQ, 64
128499861
128518325
18465
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
128507123
128508254
1132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12329.p1
8.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
128507123
128508254
1132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12340.p1
15.5
F
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 19
128500392
128508254
7863
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12676.p1
11.5
M
ASD
NA
Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
128507123
128508254
1132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
127655263
127768837
113575
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
128499861
128508254
8394
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12786.p1
7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 87
128499861
128508254
8394
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
128507123
128508254
1132
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
128507123
128508254
1132
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-14181-2940
N/A
M
ASD
N/A
N/A
127599780
127626053
26274
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB314967_1007873656
N/A
N/A
Control
No previous psychiatric history
128617760
128760832
143073
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
N/A
N/A
Control
No previous psychiatric history
129056075
129133365
77291
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB967654_1007872241
N/A
N/A
Control
No previous psychiatric history
127788099
127825901
37803
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902543_902543
N/A
N/A
Control
No previous psychiatric history
127397917
127499803
101887
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C28088A
N/A
F
Control
NIMH Control (NIMH ID 37885)
128089688
128397690
308003
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11045.s1
5.1
M
Control (matched sibling)
NA
NA
128507123
128508091
969
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11413.s1
13.5
M
Control (matched sibling)
NA
NA
128507123
128508091
969
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12676.s1
9.2
M
Control (matched sibling)
NA
NA
128507123
128508254
1132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12690.s1
10.6
M
Control (matched sibling)
NA
NA
128507123
128508254
1132
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13322.s1
14.3
F
Control (matched sibling)
NA
NA
128500392
128508254
7863
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-case1-0513-003
No validation step reported
Paternal
PTPRK
engchuan_15_ASD_discovery_cases-case14044_770
Unknown
THEMIS
engchuan_15_ASD_discovery_cases-case14082_1440
Unknown
LAMA2
engchuan_15_ASD_discovery_cases-case4363_1
Unknown
RNA5SP217,YWHAZP4,RPL5P18,ECHDC1
gazzellone_14_ASD_discovery_cases-case528-3
Unknown
Unknown
Unknown
RNA5SP217,ECHDC1,RNF146
krumm_15_ASD_discovery_cases-case12695.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
THEMIS
napoli_17_ASD_discovery_cases-case38
RT-PCR
Unknown
LAMA2
nava_13_ASD_discovery_cases-Fam962Proband10755
Unknown
Simplex
Unknown
THEMIS
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-339
Not tested by qPCR
Unknown
Unknown
Unknown
PTPRK
sanders_11_ASD_discovery_cases-11045.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTPRK
sanders_11_ASD_discovery_cases-11353.p1
Paternal
Simplex (quad-proband matched)
Segregated
PTPRK
sanders_11_ASD_discovery_cases-12175.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTPRK
sanders_11_ASD_discovery_cases-12329.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTPRK
sanders_11_ASD_discovery_cases-12340.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTPRK
sanders_11_ASD_discovery_cases-12676.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTPRK
sanders_11_ASD_discovery_cases-12695.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC02536,THEMIS
sanders_11_ASD_discovery_cases-12785.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTPRK
sanders_11_ASD_discovery_cases-12786.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTPRK
sanders_11_ASD_discovery_cases-13056.p1
Paternal
Simplex (trio)
NA
PTPRK
sanders_11_ASD_discovery_cases-13322.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTPRK
walker_13_ASD_discovery_cases-case8-14181-2940
Unknown
Simplex
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB314967_1007873656
Unknown
engchuan_15_ASD_discovery_controls-controlB966200_1007843929
Unknown
LAMA2
engchuan_15_ASD_discovery_controls-controlB967654_1007872241
Unknown
THEMIS
engchuan_15_ASD_discovery_controls-controlHABC_902543_902543
Unknown
KIAA0408,SOGA3
poultney_13_ASD_discovery_controls-control04C28088A
Unknown
PTPRK
sanders_11_ASD_discovery_controls-11045.s1
Maternal
Simplex (quad)
NA
PTPRK
sanders_11_ASD_discovery_controls-11413.s1
Paternal
Simplex (quad)
NA
PTPRK
sanders_11_ASD_discovery_controls-12676.s1
Paternal
Simplex (quad)
NA
PTPRK
sanders_11_ASD_discovery_controls-12690.s1
Maternal
Simplex (quad)
NA
PTPRK
sanders_11_ASD_discovery_controls-13322.s1
Maternal
Simplex (quad)
NA
PTPRK
No Animal Model Data Available