2q14.1CNV Type: Deletion-Duplication
Largest CNV size: 893108 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
9950
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
143986
1
9
10
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
891542
0
5
5
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
140842
0
1
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
127000
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
64559
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
498529
0
4
4
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
24287
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
893108
0
1
1
mak_17_ASD_discovery_cases
Chinese patients diagnosed with ASD recruited from a child assessment center (Department of Pediatrics and Adolescent Medicine, the University of Hong Kong) between January 2011 and August 2014.
258
Diagnosis of ASD made using DSM-IV-TR or DSM-V; tools such as CARS, CHAT-23 modified, ADI-R, or ADOS were used in difficult cases
Range, 1.5-25 years
83.33% Male
140000
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
478370
1
1
2
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
143987
0
2
2
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
465911
2
2
4
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
892697
5
11
16
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
472352
1
0
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
157822
6
12
18
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
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
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
498529
0
1
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
893108
1
1
2
mak_17_ASD_discovery_controls
Internal control database of TYH (consisting of 653 Chinese of typical development) screened for 2q14.1 duplications involving the DPP10 gene
653
Control (typical development)
N/A
N/A
N/A
0
6
6
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
465911
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.
855712
15
8
23
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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)
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
mak_17_ASD_discovery_cases
Chinese
aCGH
NimbleGen CGX-135K or Agilent-CGX 60K
Digital PCR
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
mak_17_ASD_discovery_controls
Chinese
aCGH
NimbleGen CGX-135K or Agilent-CGX 60K
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
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_discovery_cases-caseREACH000467
N/A
M
ASD
Case from REACH cohort
115736525
115746474
9950
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13135_1523
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117062539
117156034
93496
GRCh38
Duplication
No
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)
117026746
117170732
143987
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14210_3370
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117026746
117170732
143987
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16064_1571160001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117026746
117164212
137467
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20066_1318001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113665394
113772088
106695
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20088_1387001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117039592
117170732
131141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3098_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
116218490
116249827
31338
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4429_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117027559
117170732
143174
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5401_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117026746
117170732
143987
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5514_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117026746
117170732
143987
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11033.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
115336834
116228376
891543
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11324.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
115787069
115816237
29169
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13103.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
115767648
115920271
152624
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13418.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
115767648
115920271
152624
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14013.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
115767648
115920271
152624
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-caseY86
3 yrs. 3 mos.
M
ASD
115776933
115917774
140842
GRCh38
Duplication
No
hnoonual_17_ASD_discovery_cases-caseTM18-3
N/A
F
ASD
No additional clinical features
115790750
115917774
127025
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case13418.p1
N/A
M
ASD
ASD proband from SSC quad family 13418. SRS score of 61.
Full-scale IQ (FSIQ) score of 135.
115777786
115842345
64560
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11033.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
115343816
115842345
498530
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11324.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
115777207
115842345
65139
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13418.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
115777786
115842345
64560
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14013.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
115777207
115842345
65139
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0387
32 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
115503140
115527426
24287
GRCh38
Deletion
N/A
levy_11_ASD_discovery_cases-11033.p1
NA
M
ASD
NA
NA
115340012
116233119
893108
GRCh38
Duplication
No
mak_17_ASD_discovery_cases-case10
17 yrs.
M
ASD and intellectual disability
ASD, catatonia
Mild intellectual disability
115777113
115914782
137670
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0147-003
NA
F
ASD
RL/EL severe delay, moderate repetitive behavior, severe dysmorphism
IQ/LOF Unkown
114381989
114860359
478371
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0288-003
NA
F
ASD
RL/EL average/mild delay, moderate repetitive behavior
IQ/LOF 73
114668073
114773193
105121
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5401_3
NA
M
ASD
NA
NA
117026746
117170732
143987
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5514_3
NA
M
ASD
NA
NA
117026746
117170732
143987
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case100580L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
115236068
115252098
16031
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47544L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
114842247
115308157
465911
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60980L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
116249608
116388398
138791
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case75420
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
115133331
115252098
118768
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11033.p1
6.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 69; verbal IQ, 56
115336870
116229567
892698
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11154.p1
12.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 86; verbal IQ, 102
117026746
117170732
143987
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
114634899
114641845
6947
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11324.p1
11.4
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
115777346
115917774
140429
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11328.p1
7.7
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 81
116837056
116865596
28541
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
114634899
114641845
6947
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
117634899
117648500
13602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11901.p1
10.3
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
117026746
117170732
143987
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12036.p1
9.6
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 54; verbal IQ, 48
114371609
114371820
212
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12115.p1
12.1
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
114371609
114371820
212
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
117903575
117922330
18756
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
114371609
114371820
212
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12460.p1
9.4
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 63
117039592
117170732
131141
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12573.p1
17
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 70; verbal IQ, 80
117026746
117164212
137467
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
116674615
116699858
25244
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12741.p1
7.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
114371609
114371820
212
GRCh38
Duplication
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0147-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
114363682
114836033
472352
GRCh38
Deletion
Yes
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-controlB182878_1007875343
N/A
N/A
Control
No previous psychiatric history
114331010
114384039
53030
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
N/A
N/A
Control
No previous psychiatric history
114331010
114384039
53030
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB871387_1007875840
N/A
N/A
Control
No previous psychiatric history
117018625
117170732
152108
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB884573_1007852580
N/A
N/A
Control
No previous psychiatric history
117029770
117170732
140963
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB949791_1007854306
N/A
N/A
Control
No previous psychiatric history
117211593
117356432
144840
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB949791_1007854306
N/A
N/A
Control
No previous psychiatric history
117493061
117641566
148506
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB951788_1007843996
N/A
N/A
Control
No previous psychiatric history
117124240
117170732
46493
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB981427_1007852549
N/A
N/A
Control
No previous psychiatric history
117029770
117170732
140963
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900106_900106
N/A
N/A
Control
No previous psychiatric history
117029770
117170732
140963
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
N/A
N/A
Control
No previous psychiatric history
117039592
117170732
131141
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900274_900274
N/A
N/A
Control
No previous psychiatric history
117029770
117164212
134443
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900587_900587
N/A
N/A
Control
No previous psychiatric history
117027559
117170732
143174
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
N/A
N/A
Control
No previous psychiatric history
115152359
115229158
76800
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
N/A
N/A
Control
No previous psychiatric history
117026746
117170732
143987
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901208_901208
N/A
N/A
Control
No previous psychiatric history
117052896
117170732
117837
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902848_902848
N/A
N/A
Control
No previous psychiatric history
117027559
117170732
143174
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
N/A
N/A
Control
No previous psychiatric history
117493061
117641566
148506
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
N/A
N/A
Control
No previous psychiatric history
117211593
117369415
157823
GRCh38
Deletion
No
krumm_15_ASD_discovery_controls-control11033.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
115343816
115842345
498530
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11033.s1
NA
F
Control
NA
NA
115340012
116233119
893108
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-11251.s1
NA
M
Control
NA
NA
113631804
113773580
141777
GRCh38
Deletion
No
mak_17_ASD_discovery_controls-control1
N/A
N/A
Control
Typical development
N/A
N/A
N/A
GRCh37
Duplication
No
mak_17_ASD_discovery_controls-control2
N/A
N/A
Control
Typical development
N/A
N/A
N/A
GRCh37
Duplication
No
mak_17_ASD_discovery_controls-control3
N/A
N/A
Control
Typical development
N/A
N/A
N/A
GRCh37
Duplication
No
mak_17_ASD_discovery_controls-control4
N/A
N/A
Control
Typical development
N/A
N/A
N/A
GRCh37
Duplication
No
mak_17_ASD_discovery_controls-control5
N/A
N/A
Control
Typical development
N/A
N/A
N/A
GRCh37
Duplication
No
mak_17_ASD_discovery_controls-control6
N/A
N/A
Control
Typical development
N/A
N/A
N/A
GRCh37
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
116198191
116229567
31377
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
115336870
116192582
855713
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11048.s1
8.1
M
Control (matched sibling)
NA
NA
116492347
116502161
9815
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11088.s1
14.5
F
Control (matched sibling)
NA
NA
116492347
116501199
8853
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
117489543
117644568
155026
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11118.s1
13.4
M
Control (matched sibling)
NA
NA
117211593
117381870
170278
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11154.s1
9.9
F
Control (matched sibling)
NA
NA
117029770
117170732
140963
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
114634899
114641845
6947
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11203.s1
4
F
Control (matched sibling)
NA
NA
117026746
117170732
143987
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11251.s1
4.9
M
Control (matched sibling)
NA
NA
113672512
113772088
99577
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11324.s1
13
F
Control (matched sibling)
NA
NA
115777346
115917774
140429
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11328.s1
9.5
F
Control (matched sibling)
NA
NA
116834910
116865596
30687
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11391.s1
18.1
M
Control (matched sibling)
NA
NA
116313377
116337450
24074
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11444.s1
19.5
F
Control (matched sibling)
NA
NA
117634899
117658439
23541
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11537.s1
10.3
F
Control (matched sibling)
NA
NA
113396792
113403494
6703
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11855.s1
15.9
F
Control (matched sibling)
NA
NA
113403479
113406658
3180
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12380.s1
17
F
Control (matched sibling)
NA
NA
114368158
114371820
3663
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12460.s1
7
M
Control (matched sibling)
NA
NA
117039592
117170732
131141
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
113403479
113406658
3180
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12573.s1
11.7
M
Control (matched sibling)
NA
NA
117026746
117170732
143987
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12630.s1
8
F
Control (matched sibling)
NA
NA
117638656
117648500
9845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
114634899
114641845
6947
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
117101018
117185345
84328
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseREACH000467
PCR or SNP data validation
Maternal
DPP10
engchuan_15_ASD_discovery_cases-case13135_1523
Unknown
RNU7-190P
engchuan_15_ASD_discovery_cases-case13163_1803
Unknown
MTCO1P43,RNU7-190P
engchuan_15_ASD_discovery_cases-case14210_3370
Unknown
MTCO1P43,RNU7-190P
engchuan_15_ASD_discovery_cases-case16064_1571160001
Unknown
MTCO1P43,RNU7-190P
engchuan_15_ASD_discovery_cases-case20066_1318001
Unknown
RNU6-744P,SLC35F5,MIR4782
engchuan_15_ASD_discovery_cases-case20088_1387001
Unknown
RNU7-190P
engchuan_15_ASD_discovery_cases-case3098_3
Unknown
engchuan_15_ASD_discovery_cases-case4429_1
Unknown
RNU7-190P
engchuan_15_ASD_discovery_cases-case5401_3
Unknown
MTCO1P43,RNU7-190P
engchuan_15_ASD_discovery_cases-case5514_3
Unknown
MTCO1P43,RNU7-190P
girirajan_13a_ASD_discovery_cases-11033.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RPSAP23,DPP10
girirajan_13a_ASD_discovery_cases-11324.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DPP10
girirajan_13a_ASD_discovery_cases-13103.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
DPP10
girirajan_13a_ASD_discovery_cases-13418.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
DPP10
girirajan_13a_ASD_discovery_cases-14013.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
DPP10
han_22_ASD/DD/ID_discovery_cases-caseY86
Paternal
DPP10
hnoonual_17_ASD_discovery_cases-caseTM18-3
De novo
DPP10
krumm_13_ASD_discovery_cases-case13418.p1
Paternal
Simplex
Segregated
DPP10
krumm_15_ASD_discovery_cases-case11033.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
RPSAP23,DPP10
krumm_15_ASD_discovery_cases-case11324.p1
Illumina 1M
Maternal
Simplex
Segregated
DPP10
krumm_15_ASD_discovery_cases-case13418.p1
1M-Duov3
Paternal
Simplex
Segregated
DPP10
krumm_15_ASD_discovery_cases-case14013.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
DPP10
kushima_18_SCZ_discovery_cases-caseSCZ0387
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
DPP10
levy_11_ASD_discovery_cases-11033.p1
Maternal
Simplex
Not segregated
RPSAP23,DPP10
mak_17_ASD_discovery_cases-case10
Digital PCR
Unknown
DPP10
marshall_08_ASD_discovery_cases-SK0147-003
qPCR, qmPCR
Paternal
Simplex
NA
RNU2-41P,DPP10-AS3,DPP10-AS2,DPP10
marshall_08_ASD_discovery_cases-SK0288-003
qPCR, qmPCR
Paternal
Simplex-MZ
NA
DPP10
pinto_10_ASD_discovery_cases-case5401_3
Agilent1M
paternal
NA
NA
MTCO1P43,RNU7-190P
pinto_10_ASD_discovery_cases-case5514_3
Agilent1M
paternal
NA
NA
MTCO1P43,RNU7-190P
prasad_12_ASD_discovery_cases-case100580L
Unknown
Unknown
Unknown
DPP10
prasad_12_ASD_discovery_cases-case47544L
Unknown
Unknown
Unknown
DPP10
prasad_12_ASD_discovery_cases-case60980L
Unknown
Unknown
Unknown
DPP10
prasad_12_ASD_discovery_cases-case75420
Unknown
Unknown
Unknown
DPP10
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPSAP23,DPP10
sanders_11_ASD_discovery_cases-11154.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MTCO1P43,RNU7-190P
sanders_11_ASD_discovery_cases-11158.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DPP10
sanders_11_ASD_discovery_cases-11324.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DPP10
sanders_11_ASD_discovery_cases-11328.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11371.p1
Paternal
Simplex (trio)
NA
DPP10
sanders_11_ASD_discovery_cases-11506.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11901.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MTCO1P43,RNU7-190P
sanders_11_ASD_discovery_cases-12036.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12115.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12227.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HTR5BP,CCDC93
sanders_11_ASD_discovery_cases-12330.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12460.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU7-190P
sanders_11_ASD_discovery_cases-12573.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MTCO1P43,RNU7-190P
sanders_11_ASD_discovery_cases-12638.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12741.p1
Maternal
Simplex (quad-proband matched)
Not segregated
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0147-003
RT-qPCR or WGS
Paternal
RNU2-41P,DPP10-AS3,DPP10-AS2,DPP10
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB182878_1007875343
Unknown
engchuan_15_ASD_discovery_controls-controlB857546_0067942612
Unknown
engchuan_15_ASD_discovery_controls-controlB871387_1007875840
Unknown
MTND1P28,MTND2P21,MTCO1P43,RNU7-190P
engchuan_15_ASD_discovery_controls-controlB884573_1007852580
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlB949791_1007854306
Unknown
engchuan_15_ASD_discovery_controls-controlB949791_1007854306
Unknown
engchuan_15_ASD_discovery_controls-controlB951788_1007843996
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlB981427_1007852549
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlHABC_900106_900106
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlHABC_900267_900267
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlHABC_900274_900274
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlHABC_900587_900587
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
Unknown
DPP10-AS1,DPP10
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
Unknown
MTCO1P43,RNU7-190P
engchuan_15_ASD_discovery_controls-controlHABC_901208_901208
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlHABC_902848_902848
Unknown
RNU7-190P
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
Unknown
krumm_15_ASD_discovery_controls-control11033.s1
Illumina 1M
Maternal
RPSAP23,DPP10
levy_11_ASD_discovery_controls-11033.s1
Maternal
Simplex
NA
RPSAP23,DPP10
levy_11_ASD_discovery_controls-11251.s1
Paternal
Simplex
NA
RNU6-744P,SLC35F5,MIR4782,RABL2A
mak_17_ASD_discovery_controls-control1
Unknown
DPP10
mak_17_ASD_discovery_controls-control2
Unknown
DPP10
mak_17_ASD_discovery_controls-control3
Unknown
DPP10
mak_17_ASD_discovery_controls-control4
Unknown
DPP10
mak_17_ASD_discovery_controls-control5
Unknown
DPP10
mak_17_ASD_discovery_controls-control6
Unknown
DPP10
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
RPSAP23,DPP10
sanders_11_ASD_discovery_controls-11048.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11088.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11118.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11118.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11154.s1
Paternal
Simplex (quad)
NA
RNU7-190P
sanders_11_ASD_discovery_controls-11158.s1
Paternal
Simplex (quad)
NA
DPP10
sanders_11_ASD_discovery_controls-11203.s1
Maternal
Simplex (quad)
NA
MTCO1P43,RNU7-190P
sanders_11_ASD_discovery_controls-11251.s1
Paternal
Simplex (quad)
NA
RNU6-744P,SLC35F5,MIR4782
sanders_11_ASD_discovery_controls-11324.s1
Maternal
Simplex (quad)
NA
DPP10
sanders_11_ASD_discovery_controls-11328.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11391.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11444.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11537.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11855.s1
Paternal
Simplex (quad)
NA
IGKV1OR2-108
sanders_11_ASD_discovery_controls-12380.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12460.s1
Maternal
Simplex (quad)
NA
RNU7-190P
sanders_11_ASD_discovery_controls-12555.s1
Paternal
Simplex (quad)
NA
IGKV1OR2-108
sanders_11_ASD_discovery_controls-12573.s1
Maternal
Simplex (quad)
NA
MTCO1P43,RNU7-190P
sanders_11_ASD_discovery_controls-12630.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12638.s1
Maternal
Simplex (quad)
NA
DPP10
sanders_11_ASD_discovery_controls-12939.s1
Paternal
Simplex (quad)
NA
RNU7-190P
No Animal Model Data Available