11q21CNV Type: Deletion-Duplication
Largest CNV size: 208425 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Convergence of genes and cellular pathways dysregulated in 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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to 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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
236623
10
3
13
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
30125
0
3
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
48541
1
0
1
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
477000
0
1
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
60416
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
52976
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
23301
1
2
3
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
62728
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
208425
27
1
28
shin_15_ASD/DD/ID_discovery_cases
Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
96
34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
N/A
69.8% Male
479000
0
1
1
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
52036
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
45229
1
0
1
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
143919
6
5
11
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
336869
1
0
1
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
33232
2
0
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
156701
1
0
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
21233
1
0
1
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)
15464
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
23301
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
156352
19
1
20
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
52052
0
2
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
shin_15_ASD/DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
engchuan_15_ASD_discovery_cases-case13163_1803
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96542845
96587525
44681
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13230_2563
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96475095
96542845
67751
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14021_410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97187949
97273081
85133
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14350_4640
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97103884
97177102
73219
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14379_4920
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96475095
96542845
67751
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16072_1571036001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96475095
96542845
67751
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3018_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
94445959
94480739
34781
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3387_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96853320
96915136
61817
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3446_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96853320
96915136
61817
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4384_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96786119
96853320
67202
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5142_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96475095
96542845
67751
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8404_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96854721
96915136
60416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8636_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93144367
93380990
236624
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11227.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
95022856
95052981
30126
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13612.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
95022856
95052981
30126
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14354.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
95022856
95052981
30126
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case2973
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
93637462
93686002
48541
Unknown
Deletion
No
kim_18_DD/ID_discovery_cases-case27
4.1 yrs.
F
Developmental delay, autism, and epilepsy
Autism, epilepsy, dysmorphic features, failure to thrive, double ureter, microcephaly
Severe developmental delay
95844450
96321249
476800
GRCh38
Duplication
No
pinto_14_ASD_discovery_cases2-case8404_201
N/A
M
ASD
Autism. Family history: 2 healhy sisters, not tested; paternal cousin with high functioning ASD.
Low-average IQ (WISC-III at 15 y: VIQ 84, PIQ 84, FSIQ 83)
96854721
96915136
60416
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0744A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU007504; NDAR ID NDAR_INVCU989WJU)
95835288
95888263
52976
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case126569
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
93542502
93549705
7204
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59983
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
92853556
92868884
15329
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62391L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
95778127
95801427
23301
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-204
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
94181790
94244517
62728
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11028.p1
9
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
93290997
93295774
4778
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11069.p1
9.5
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 96; verbal IQ, 83
96475095
96542845
67751
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
96716773
96719486
2714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11168.p1
11.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 106; verbal IQ, 119
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
96467766
96672793
205028
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
95027452
95048683
21232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11299.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 104; verbal IQ, 87
96199959
96206672
6714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11370.p1
14.6
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 110; verbal IQ 102
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
96586978
96597679
10702
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
94875954
94880589
4636
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11587.p1
12.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 111; verbal IQ, 144
96659700
96672892
13193
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11710.p1
6.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 73
93672897
93691993
19097
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11798.p1
4.8
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 113
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11800.p1
13.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
93756191
93765667
9477
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11981.p1
6.6
F
Aspergers
NA
Full-scale IQ, 99; non-verbal IQ, 99; verbal IQ, 100
93950514
93952836
2323
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12345.p1
11.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
94873768
94880589
6822
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12395.p1
5.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 91; verbal IQ, 81
97058337
97237728
179392
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12457.p1
9.6
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
97112792
97138206
25415
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12641.p1
10.3
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 63
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12740.p1
4.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 113; verbal IQ, 131
96475095
96542845
67751
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13021.p1
12.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 109; verbal IQ, 98
96199959
96206672
6714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13159.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
93950514
93952836
2323
GRCh38
Deletion
No
shin_15_ASD/DD/ID_discovery_cases-case24
2 yrs.
F
Developmental delay
Developmental delay, alternating exotropia, vesicoureteral reflux
95842851
96321679
478829
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family46_Twin_2
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
95836177
95888212
52036
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
brandler_18_ASD_replication_controls-controlSSC06318
N/A
F
control
Control from SSC_phase2 cohort
96225474
96270702
45229
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036005502_
N/A
N/A
Control
No previous psychiatric history
96475095
96542845
67751
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
N/A
N/A
Control
No previous psychiatric history
97112792
97222012
109221
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB326674_1007853788
N/A
N/A
Control
No previous psychiatric history
93002899
93119731
116833
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB458066_1007853853
N/A
N/A
Control
No previous psychiatric history
96475095
96553491
78397
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
N/A
N/A
Control
No previous psychiatric history
92991185
93135104
143920
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900430_900430
N/A
N/A
Control
No previous psychiatric history
96479120
96551223
72104
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900480_900480
N/A
N/A
Control
No previous psychiatric history
94194363
94231751
37389
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900912_900912
N/A
N/A
Control
No previous psychiatric history
96475095
96542845
67751
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901189_901189
N/A
N/A
Control
No previous psychiatric history
96401067
96434425
33359
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902561_902561
N/A
N/A
Control
No previous psychiatric history
96551223
96660210
108988
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
N/A
N/A
Control
No previous psychiatric history
95512390
95645331
132942
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_controls-32208110333
N/A
N/A
Control
Ethnicity: Caucasian
N/A
96971156
97308025
336870
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11208.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
93755209
93761688
6480
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11415.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
96358992
96392224
33233
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11415.s1
NA
M
Control
NA
NA
96359438
96516138
156701
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27990
Control
94449158
94470390
21233
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C40145A
N/A
M
Control
NIMH Control (NIMH ID 52670)
95835288
95850751
15464
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11053.s1
13.3
M
Control (matched sibling)
NA
NA
96475095
96553491
78397
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11069.s1
7.4
F
Control (matched sibling)
NA
NA
96475095
96551223
76129
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
93950514
93952836
2323
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11094.s1
12.2
M
Control (matched sibling)
NA
NA
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11099.s1
14.5
F
Control (matched sibling)
NA
NA
96199959
96206672
6714
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11208.s1
11.4
F
Control (matched sibling)
NA
NA
93756191
93765667
9477
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11415.s1
13.6
M
Control (matched sibling)
NA
NA
96359212
96515564
156353
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
93949182
93968903
19722
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
94875954
94880589
4636
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11587.s1
10.3
F
Control (matched sibling)
NA
NA
96654313
96672892
18580
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11642.s1
7.6
F
Control (matched sibling)
NA
NA
93950514
93952836
2323
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11901.s1
7.5
F
Control (matched sibling)
NA
NA
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
94875954
94880589
4636
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11959.s1
9.7
F
Control (matched sibling)
NA
NA
96475095
96551223
76129
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
93290216
93295774
5559
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
94170604
94175706
5103
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12501.s1
8.1
M
Control (matched sibling)
NA
NA
96411821
96429219
17399
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
93599319
93609544
10226
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
94170604
94175706
5103
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12962.s1
8.3
F
Control (matched sibling)
NA
NA
96226614
96267054
40441
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family46_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic subgroup
95836161
95888212
52052
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_controls-family60_Twin_2
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant typically developed (TD) diagnostic subgroup
95836177
95888212
52036
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13163_1803
Unknown
engchuan_15_ASD_discovery_cases-case13230_2563
Unknown
JRKL,JRKL-AS1
engchuan_15_ASD_discovery_cases-case14021_410
Unknown
LINC02553
engchuan_15_ASD_discovery_cases-case14350_4640
Unknown
engchuan_15_ASD_discovery_cases-case14379_4920
Unknown
JRKL,JRKL-AS1
engchuan_15_ASD_discovery_cases-case16072_1571036001
Unknown
JRKL,JRKL-AS1
engchuan_15_ASD_discovery_cases-case3018_3
Unknown
MIR548L,MRE11
engchuan_15_ASD_discovery_cases-case3387_4
Unknown
engchuan_15_ASD_discovery_cases-case3446_3
Unknown
engchuan_15_ASD_discovery_cases-case4384_100
Unknown
engchuan_15_ASD_discovery_cases-case5142_4
Unknown
JRKL,JRKL-AS1
engchuan_15_ASD_discovery_cases-case8404_201
Unknown
engchuan_15_ASD_discovery_cases-case8636_201
Unknown
DEUP1,SLC36A4
girirajan_13a_ASD_discovery_cases-11227.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
KDM4F,KDM4E
girirajan_13a_ASD_discovery_cases-13612.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
KDM4F,KDM4E
girirajan_13a_ASD_discovery_cases-14354.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
KDM4F,KDM4E
kanduri_15_ASD_discovery_cases-case2973
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, VSTM5(dist=53794),HEPHL1(dist=68376)
kim_18_DD/ID_discovery_cases-case27
Paternal
MTMR2,MAML2
pinto_14_ASD_discovery_cases2-case8404_201
qPCR
Maternal
Extended multiplex
Unknown
poultney_13_ASD_discovery_cases-case99HI0744A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNA5SP345,MTMR2
prasad_12_ASD_discovery_cases-case126569
Unknown
Unknown
Unknown
PANX1
prasad_12_ASD_discovery_cases-case59983
Unknown
Unknown
Unknown
C11orf75
prasad_12_ASD_discovery_cases-case62391L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-204
Not tested by qPCR
Unknown
Unknown
Unknown
PANX1
sanders_11_ASD_discovery_cases-11028.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11047.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11069.p1
Maternal
Simplex (quad-proband matched)
Not segregated
JRKL,JRKL-AS1
sanders_11_ASD_discovery_cases-11141.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11168.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11200.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RNA5SP346,JRKL,JRKL-AS1
sanders_11_ASD_discovery_cases-11227.p1
Maternal
Simplex (quad-proband matched)
Segregated
KDM4E
sanders_11_ASD_discovery_cases-11299.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MAML2
sanders_11_ASD_discovery_cases-11370.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11485.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11554.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Not segregated
AMOTL1
sanders_11_ASD_discovery_cases-11587.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11710.p1
Unknown
Simplex (trio)
NA
CEP295
sanders_11_ASD_discovery_cases-11798.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11800.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
TAF1D,C11orf54
sanders_11_ASD_discovery_cases-11914.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11964.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11981.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12345.p1
Unknown
Simplex (quad-proband matched)
Not segregated
AMOTL1
sanders_11_ASD_discovery_cases-12395.p1
Maternal
Simplex (trio)
NA
LINC02553
sanders_11_ASD_discovery_cases-12457.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12472.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12641.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12740.p1
Paternal
Simplex (trio)
NA
JRKL,JRKL-AS1
sanders_11_ASD_discovery_cases-13021.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MAML2
sanders_11_ASD_discovery_cases-13159.p1
Unknown
Simplex (quad-proband matched)
Not segregated
shin_15_ASD/DD/ID_discovery_cases-case24
Unknown
Unknown
MTMR2,MAML2
stamouli_18_ASD/NDD_discovery_cases-family46_Twin_2
Unknown
Multiplex
Not segregated (CNV also present in unaffected twin)
RNA5SP345,MTMR2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC06318
No validation step reported
Maternal
MAML2
engchuan_15_ASD_discovery_controls-control110036005502_
Unknown
JRKL,JRKL-AS1
engchuan_15_ASD_discovery_controls-controlB114549_1007853874
Unknown
engchuan_15_ASD_discovery_controls-controlB326674_1007853788
Unknown
RPL26P31
engchuan_15_ASD_discovery_controls-controlB458066_1007853853
Unknown
JRKL,JRKL-AS1
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
Unknown
RPL26P31
engchuan_15_ASD_discovery_controls-controlHABC_900430_900430
Unknown
JRKL,JRKL-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900480_900480
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900912_900912
Unknown
JRKL,JRKL-AS1
engchuan_15_ASD_discovery_controls-controlHABC_901189_901189
Unknown
JRKL
engchuan_15_ASD_discovery_controls-controlHABC_902561_902561
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902887_902887
Unknown
girirajan_13b_ASD_discovery_controls-32208110333
Unknown
MED28P5,LINC02553
krumm_15_ASD_discovery_controls-control11208.s1
Illumina 1M
Maternal
TAF1D,C11orf54
krumm_15_ASD_discovery_controls-control11415.s1
Illumina 1M
Maternal
CCDC82,JRKL
levy_11_ASD_discovery_controls-11415.s1
Maternal
Simplex
NA
RNA5SP346,CCDC82,JRKL,JRKL-AS1
nord_11_ASD_discovery_controls-04C27990
ENDOD1
poultney_13_ASD_discovery_controls-control05C40145A
Unknown
RNA5SP345,MTMR2
sanders_11_ASD_discovery_controls-11053.s1
Paternal
Simplex (quad)
NA
JRKL,JRKL-AS1
sanders_11_ASD_discovery_controls-11069.s1
Maternal
Simplex (quad)
NA
JRKL,JRKL-AS1
sanders_11_ASD_discovery_controls-11073.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11094.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11099.s1
Maternal
Simplex (quad)
NA
MAML2
sanders_11_ASD_discovery_controls-11208.s1
Maternal
Simplex (quad)
NA
TAF1D,C11orf54
sanders_11_ASD_discovery_controls-11415.s1
Maternal
Simplex (quad)
NA
RNA5SP346,CCDC82,JRKL,JRKL-AS1
sanders_11_ASD_discovery_controls-11549.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11567.s1
Maternal
Simplex (quad)
NA
AMOTL1
sanders_11_ASD_discovery_controls-11587.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11642.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11901.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Unknown
Simplex (quad)
NA
AMOTL1
sanders_11_ASD_discovery_controls-11959.s1
Maternal
Simplex (quad)
NA
JRKL,JRKL-AS1
sanders_11_ASD_discovery_controls-11964.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12184.s1
Maternal
Simplex (quad)
NA
PANX1
sanders_11_ASD_discovery_controls-12501.s1
Maternal
Simplex (quad)
NA
JRKL
sanders_11_ASD_discovery_controls-12515.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12578.s1
Paternal
Simplex (quad)
NA
PANX1
sanders_11_ASD_discovery_controls-12962.s1
Maternal
Simplex (quad)
NA
MAML2
stamouli_18_ASD/NDD_discovery_controls-family46_Twin_1
Unknown
Simplex
RNA5SP345,MTMR2
stamouli_18_ASD/NDD_discovery_controls-family60_Twin_2
Unknown
N/A (both twins typically developing)
RNA5SP345,MTMR2
No Animal Model Data Available