10q21.1CNV Type: Deletion-Duplication
Largest CNV size: 4315000 bp
Statistics Box:
Number of Reports: 28
Number of Reports: 28
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
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.
Deletion
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.
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
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
173728
1
0
1
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
175057
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
431368
2
0
2
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
224558
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
277925
11
1
12
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
302246
1
0
1
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
702212
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
2981304
1
2
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
993550
0
2
2
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
3499
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1472387
4
1
5
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
59358
1
0
1
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
207726
1
0
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
59359
1
1
2
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
1531447
5
0
5
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
207727
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
65000
1
1
2
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
1078205
0
3
3
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
423000
1
0
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
1051000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
21601
2
0
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
95416
2
0
2
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
43167
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)
2393
2
0
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
1893668
4
2
6
reinthaler_14_EP_discovery_cases
Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
281
Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
N/A
58.72% Male
551000
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
267975
2
0
2
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
292797
41
49
90
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
1000
1
0
1
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
4315000
1
0
1
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
290609
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
2563
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
379691
18
6
24
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
302246
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
31485
3
1
4
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
136451
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
1472387
3
2
5
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
207726
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
207727
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.
26681
0
2
2
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)
225847
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)
1893668
0
0
0
reinthaler_14_EP_discovery_controls
Unscreened population controls
1512
Control
N/A
49.93% Male
551000
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.
824171
35
33
68
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
4315000
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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)
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
reinthaler_14_EP_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
reinthaler_14_EP_discovery_controls
German
Solid phase hybridization
Illumina HumanOmniExpress BeadChip
PennCNV
Illumina Genome Viewer
None
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
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
bacchelli_20_ASD_discovery_cases-caseAB90
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
55231647
55405374
173728
GRCh38
Deletion
No
calderoni_20_ASD_discovery_cases-caseP11
3 yrs. 1 mo.
F
ASD
ADOS module 1 evaluation: Social Affect score 7, Restricted and Repetitive Behaviors score 6, Calibrated Severity Score 5. Language and communication evaluation: verbal.
IQ 70
53857157
54032213
175057
GRCh38
Deletion
Yes
cucinotta_23_ASD_discovery_cases-case157
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
55543668
55585378
41711
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case349
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
55203564
55634931
431368
GRCh38
Deletion
No
davis_09_ASD_discovery_cases-AU008404
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: trigonocephaly
56203089
56427647
224558
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case1030_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54836130
54931545
95416
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14062_1060
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55907908
56185832
277925
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14086_1500
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55108096
55360523
252428
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14313_4300
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54850955
54931545
80591
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20085_1382001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55657066
55704205
47140
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21002_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55430022
55536202
106181
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4195_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55160469
55222542
62074
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5526_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54850955
54931545
80591
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6157_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54689126
54795212
106087
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6199_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54850955
54955063
104109
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6213_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
54006668
54159304
152637
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6284_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
55447336
55504150
56815
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si15
14
M
Autism
ADOS score: 4. Vineland composite score: 84.
No mental retardation/intellectual disability. Full-scale IQ, 101; Verbal IQ, 86; Non-verbal IQ, 109.
55149604
55451850
302247
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case19D1202
6 days
F
Developmental delay
Poor response, body shaking
54877103
55579314
702212
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002739
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
54287239
57268543
2981305
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004823
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
51986860
52975790
988931
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005150
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53477144
54916701
1439558
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1869
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.
53192833
54186382
993550
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case1946
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.
56448886
56467563
18678
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case11696.p1
N/A
M
ASD
ASD proband from SSC quad family 11696. SRS score of 71.
Full-scale IQ (FSIQ) score of 95.
52768136
52771635
3500
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12997.p1
N/A
M
ASD
ASD proband from SSC quad family 12997. SRS score of 81.
Full-scale IQ (FSIQ) score of 97.
52768136
52771635
3500
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11696.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52768136
52771635
3500
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11792.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52768136
52771635
3500
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11962.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
51299248
52771635
1472388
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12113.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52768136
52771637
3502
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13015.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
52768136
52769333
1198
GRCh38
Deletion
Yes
kushima_18_ASD_discovery_cases-caseASD0727
22 yrs.
M
ASD
Family history: negative.
IQ > 70
53976705
54036062
59358
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1854
33 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
54690788
54898513
207726
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD0175
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
54658913
54702617
43705
GRCh38
Duplication
Yes
kushima_22_ASD_discovery_cases-caseASD0727
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
53976704
54036062
59359
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD0874
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
54719916
55495166
775251
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1005
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
54306029
54325824
19796
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD1286
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
54695284
54807204
111921
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD2003
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
53976704
54036062
59359
GRCh38
Deletion
Yes
kushima_22_BPD_discovery_cases-caseBD2006
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
52733186
54264632
1531447
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ1854
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
54690787
54898513
207727
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-case13-19
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: Awakening, CSSG. Autistic features: No. ADHD features: Yes. Other features: None.
Initial cognitive development: Normal. Cognitive regression: No. Verbal IQ 110, performance IQ 109 (at 7 years of age)
54866411
54931601
65191
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseDY64
NA
M
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: Awake, nocturnal. Autistic features: No. ADHD features: Yes. Other features: Periventricular white matter hypersignal.
Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 50, performance IQ 48 (at 6 years of age).
54274666
54329682
55017
GRCh38
Duplication
Yes
mahjani_22_OCD/CTD_discovery_cases-case17
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
55228595
56261052
1032458
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case27
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
55140067
56218271
1078205
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case69
NA
M
OCD and chronic tic disorder
Case diagnosed with obsessive compulsive disorder (OCD) and chronic tic disorder (CTD).
55315396
55900706
585311
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown2
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
56661675
57085036
423362
GRCh38
Deletion
No
monteiro_19_ASD_discovery_cases_case23
N/A
M
ASD
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: normal (no developmental delay). Dysmorphic features: none reported.
Normal (no intellectual disability)
54425630
55476766
1051137
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-214-1
ASD
61027113
61048713
21601
Unknown
Deletion
No
nord_11_ASD_discovery_cases-216-1
ASD
56049624
56069451
19828
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case1030_3
NA
M
ASD
NA
NA
54836130
54931545
95416
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5526_3
NA
M
ASD
NA
NA
54850955
54931545
80591
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case9882_202
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
55629580
55672746
43167
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1659A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU074703; NDAR ID NDAR_INVJJ895UYV)
52769245
52771637
2393
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0555A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU044004; NDAR ID NDAR_INVMU758BXY)
52769245
52771637
2393
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case104196
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
55285266
57178933
1893668
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case134102
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
56965752
57005691
39940
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case138150L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
57021614
57031755
10142
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case143189
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
56189809
56200663
10855
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case146442L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
59945646
59955727
10082
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case57224L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
59684362
59694372
10011
Unknown
Deletion
No
reinthaler_14_EP_discovery_cases-caseAVRE05
N/A
F
Epilepsy
Epilepsy phenotype: rolandic epilepsy.
54529105
55080495
551391
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1474-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
55156783
55424757
267975
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
53726257
53908677
182421
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11012.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11027.p1
9.3
M
ASD
NA
Full-scale IQ, 83; non-verbal IQ, 84; verbal IQ, 86
54763911
54767039
3129
GRCh38
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
52920199
52935578
15380
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11050.p1
5.7
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
56755758
56767255
11498
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
52784801
52787697
2897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11110.p1
15.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 62; verbal IQ, 32
57138157
57176793
38637
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11118.p1
11.7
F
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 104; verbal IQ, 77
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
57138157
57176793
38637
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
55592021
55601042
9022
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
59644182
59655602
11421
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11164.p1
7.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
55299723
55565956
266234
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11184.p1
9.5
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11197.p1
10.1
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 110
54763911
54767039
3129
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11203.p1
7.1
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
54689126
54704247
15122
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11219.p1
8.8
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 100; verbal IQ, 98
57384204
57666882
282679
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11220.p1
12.1
F
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 75
56979673
56991673
12001
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11224.p1
8.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
54689126
54704247
15122
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11254.p1
9.8
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 94; verbal IQ, 48
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
55609357
55899578
290222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11325.p1
15.6
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 21
54689126
54707803
18678
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
54161556
54166268
4713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11330.p1
10.5
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11339.p1
10
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 62; verbal IQ, 93
55167660
55174161
6502
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11346.p1
11
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 132; verbal IQ, 121
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11368.p1
5.9
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
58330824
58335383
4560
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
56755758
56767255
11498
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11444.p1
16.3
F
Aspergers
NA
Full-scale IQ, 120; non-verbal IQ, 125; verbal IQ, 121
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11452.p1
8.5
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 80; verbal IQ, 85
54763911
54772276
8366
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11465.p1
11.4
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
52784801
52787697
2897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11484.p1
10.8
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 104
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
55201745
55234843
33099
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
53467299
53508246
40948
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11516.p1
12.8
M
Aspergers
NA
Full-scale IQ, 111; non-verbal IQ, 112; verbal IQ, 107
52110481
52113563
3083
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11526.p1
7.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 85
58917362
58968127
50766
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11530.p1
8.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 88
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11557.p1
4.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
55191059
55234843
43785
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11575.p1
11.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11660.p1
5
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
57008559
57159511
150953
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11685.p1
5.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 96; verbal IQ, 104
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
52764898
52776791
11894
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
52804647
52808904
4258
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11792.p1
10.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
52764898
52772139
7242
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
59644182
59655602
11421
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11827.p1
17.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
54689126
54714084
24959
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11834.p1
10.5
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 93; verbal IQ, 46
54622852
54639364
16513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11835.p1
6.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 92; verbal IQ, 77
54447737
54449207
1471
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
52784801
52787697
2897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
55191059
55234843
43785
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11938.p1
4.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 95; verbal IQ, 82
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
52784801
52787697
2897
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
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12006.p1
15.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 104; verbal IQ, 50
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12033.p1
10.8
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 102; verbal IQ, 73
57138157
57177948
39792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
52764898
52772139
7242
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
55785486
55887821
102336
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12154.p1
4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 87
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
52766862
52768432
1571
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
52784801
52787697
2897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12220.p1
14.4
F
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
53618908
53710651
91744
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12238.p1
8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 90; verbal IQ, 84
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12255.p1
4.1
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12286.p1
4.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
54689126
54718524
29399
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12289.p1
12.2
M
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
55160469
55453266
292798
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12300.p1
7.3
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 102
55592021
55601042
9022
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12331.p1
12.3
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 114; verbal IQ, 111
54696816
54707803
10988
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12332.p1
12.3
M
ASD
NA
Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
56569449
56726789
157341
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12362.p1
7.5
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
54536060
54681391
145332
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12485.p1
6.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 97; verbal IQ, 98
56979673
56991673
12001
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
52920199
52935578
15380
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12515.p1
6.3
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
57412906
57615107
202202
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12548.p1
11.9
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
57412805
57619700
206896
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12685.p1
16
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 99; verbal IQ, 102
56755758
56772555
16798
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
57132515
57185960
53446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12758.p1
11.3
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
56753095
56760886
7792
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12764.p1
15.2
F
ASD
NA
Full-scale IQ, 94; non-verbal IQ, 99; verbal IQ, 86
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12838.p1
4.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12871.p1
16.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ, 59
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12925.p1
13.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
57902976
57968074
65099
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12931.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 53; verbal IQ, 45
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
52764898
52777687
12790
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
52766862
52769497
2636
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
56167381
56173149
5769
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR043-H10-01C06237
NA
ASD
NA
NA
58508134
58508634
501
GRCh38
Deletion
Yes
wang_10_ASD_discovery_cases-AC0045
33
M
ASD
NA
NA
53020917
57336182
4315266
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0774-000
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
53763411
53821903
58493
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0148-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
54059711
54350319
290609
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
brandler_18_ASD_discovery_controls-controlSSC05185
N/A
F
Control
Control from SSC cohort
53586370
53588933
2564
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB257988_1007841389
N/A
N/A
Control
No previous psychiatric history
54675619
54707803
32185
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB264147_1007873345
N/A
N/A
Control
No previous psychiatric history
54850955
54931545
80591
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB322826_1007842114
N/A
N/A
Control
No previous psychiatric history
57138157
57188447
50291
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB452714_1007872596
N/A
N/A
Control
No previous psychiatric history
55679829
55755902
76074
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB482145_1007852908
N/A
N/A
Control
No previous psychiatric history
53217221
53297961
80741
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB581247_1007872544
N/A
N/A
Control
No previous psychiatric history
53230713
53535173
304461
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB631312_1007875286
N/A
N/A
Control
No previous psychiatric history
56617688
56670477
52790
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB697076_1007841045
N/A
N/A
Control
No previous psychiatric history
57138157
57188447
50291
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB822754_0057061009
N/A
N/A
Control
No previous psychiatric history
54718524
54931545
213022
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB883531_1007844959
N/A
N/A
Control
No previous psychiatric history
55696501
55746898
50398
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900151_900151
N/A
N/A
Control
No previous psychiatric history
55003826
55068490
64665
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900281_900281
N/A
N/A
Control
No previous psychiatric history
54900677
55252755
352079
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900373_900373
N/A
N/A
Control
No previous psychiatric history
55404388
55635747
231360
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900519_900519
N/A
N/A
Control
No previous psychiatric history
54883058
55240298
357241
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900580_900580
N/A
N/A
Control
No previous psychiatric history
54814146
54867817
53672
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
N/A
N/A
Control
No previous psychiatric history
57008559
57156999
148441
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900912_900912
N/A
N/A
Control
No previous psychiatric history
53419659
53799350
379692
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
N/A
N/A
Control
No previous psychiatric history
57138157
57176793
38637
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901040_901040
N/A
N/A
Control
No previous psychiatric history
55187435
55252111
64677
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901232_901232
N/A
N/A
Control
No previous psychiatric history
58103924
58153109
49186
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902496_902496
N/A
N/A
Control
No previous psychiatric history
54850955
54937776
86822
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902524_902524
N/A
N/A
Control
No previous psychiatric history
52073911
52228903
154993
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902629_902629
N/A
N/A
Control
No previous psychiatric history
54850955
54931545
80591
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
N/A
N/A
Control
No previous psychiatric history
57413077
57615107
202031
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1274
N/A
N/A
Control
Control 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
58905069
58936553
31485
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1932
N/A
N/A
Control
Control 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
58905069
58936553
31485
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split279
N/A
N/A
Control
Control 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
58905069
58936553
31485
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split349
N/A
N/A
Control
Control 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
56448886
56467563
18678
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12304.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12304. SRS score of 39.
54527811
54664262
136452
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control12997.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12997. SRS score of 40.
52768136
52771635
3500
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11132.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
52768136
52769315
1180
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11194.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
59177554
59238707
61154
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11962.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
51299248
52771635
1472388
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12304.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
54528387
54664262
135876
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12692.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
54066756
54133007
66252
GRCh38
Deletion
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON1634
57 yrs.
F
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
54690788
54898513
207726
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1634
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
54690787
54898513
207727
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27344
Control
57489020
57500338
11319
Unknown
Duplication
nord_11_ASD_discovery_controls-04C28226
Control
57004521
57031201
26681
Unknown
Duplication
poultney_13_ASD_discovery_controls-control05C41920
N/A
M
Control
NIMH Control (NIMH ID 55831)
54153098
54378944
225847
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11014.s1
5
M
Control (matched sibling)
NA
NA
52251905
52256859
4955
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
52920199
52935578
15380
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11073.s1
7.8
F
Control (matched sibling)
NA
NA
53430219
53435649
5431
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11088.s1
14.5
F
Control (matched sibling)
NA
NA
56755758
56767255
11498
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11088.s1
14.5
F
Control (matched sibling)
NA
NA
52577261
52629613
52353
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11110.s1
16.8
M
Control (matched sibling)
NA
NA
57138157
57177948
39792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11132.s1
10.7
M
Control (matched sibling)
NA
NA
52766862
52768432
1571
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11160.s1
11.5
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11164.s1
5.4
F
Control (matched sibling)
NA
NA
55299723
55574401
274679
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11189.s1
12.2
F
Control (matched sibling)
NA
NA
52256302
52261313
5012
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11194.s1
10.7
M
Control (matched sibling)
NA
NA
53604598
53638226
33629
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11212.s1
19.2
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11219.s1
7
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
56798193
56813478
15286
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11224.s1
7.1
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11254.s1
12.8
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11291.s1
13.6
F
Control (matched sibling)
NA
NA
56753095
56762983
9889
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
52764898
52772139
7242
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11303.s1
4.5
M
Control (matched sibling)
NA
NA
55592021
55610479
18459
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11346.s1
12.9
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11353.s1
6.8
M
Control (matched sibling)
NA
NA
56753095
56760563
7469
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11378.s1
11.2
M
Control (matched sibling)
NA
NA
54493262
54529257
35996
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11459.s1
14.3
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11463.s1
12.7
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11470.s1
12.2
M
Control (matched sibling)
NA
NA
57086815
57090093
3279
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
56755758
56767255
11498
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11502.s1
13.2
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
53326793
53328529
1737
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
53467299
53508246
40948
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11541.s1
12.2
F
Control (matched sibling)
NA
NA
52764898
52776791
11894
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
55191059
55234843
43785
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11665.s1
12.9
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11685.s1
7.8
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11765.s1
7.8
F
Control (matched sibling)
NA
NA
56979673
56991673
12001
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11834.s1
8.3
M
Control (matched sibling)
NA
NA
54622852
54639364
16513
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11835.s1
8
M
Control (matched sibling)
NA
NA
52366803
52369894
3092
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11855.s1
15.9
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11872.s1
6
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11939.s1
12.4
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
52784801
52787697
2897
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12001.s1
6.3
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12006.s1
16.9
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12030.s1
8.2
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
57138157
57177948
39792
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12130.s1
8.4
M
Control (matched sibling)
NA
NA
54685856
54707803
21948
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
53326793
53328529
1737
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12289.s1
16.3
M
Control (matched sibling)
NA
NA
55154378
55453266
298889
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12300.s1
4.8
F
Control (matched sibling)
NA
NA
55592021
55601042
9022
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12304.s1
16.9
M
Control (matched sibling)
NA
NA
54391318
55215489
824172
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12358.s1
6.7
M
Control (matched sibling)
NA
NA
54696816
54707803
10988
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12372.s1
13.5
F
Control (matched sibling)
NA
NA
57085368
57090093
4726
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
52920199
52935578
15380
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
57413077
57619700
206624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12561.s1
7.8
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12657.s1
10.8
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12695.s1
14.1
M
Control (matched sibling)
NA
NA
57138157
57176793
38637
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12780.s1
5.9
M
Control (matched sibling)
NA
NA
56379925
56842246
462322
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12864.s1
12.9
F
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
52784801
52787697
2897
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
54689126
54707803
18678
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
52764898
52777079
12182
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
56167381
56183139
15759
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
52784801
52787697
2897
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_cases-caseAB90
Maternal
Simplex
PCDH15
calderoni_20_ASD_discovery_cases-caseP11
qPCR
Maternal
PCDH15
cucinotta_23_ASD_discovery_cases-case157
Paternal
PCDH15
cucinotta_23_ASD_discovery_cases-case349
Unknown
PCDH15,MTRNR2L5
davis_09_ASD_discovery_cases-AU008404
Unknown
Unknown
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case1030_3
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case14062_1060
Unknown
engchuan_15_ASD_discovery_cases-case14086_1500
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case14313_4300
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case20085_1382001
Unknown
GAPDHP21
engchuan_15_ASD_discovery_cases-case21002_1
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case4195_1
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case5526_3
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case6157_3
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case6199_4
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case6213_4
Unknown
PCDH15
engchuan_15_ASD_discovery_cases-case6284_3
Unknown
PCDH15
girirajan_11_ASD_discovery_cases-Si15
Unknown
Simplex
PCDH15
han_22_ASD/DD/ID_discovery_cases-case19D1202
Unknown
PCDH15
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002739
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-687P,NEFMP1,MIR548F1,MTRNR2L5,GAPDHP21,ZWINT,PCDH15
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004823
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
DKK1,RPL31P44,MBL2,THAP12P3,PRKG1-AS1,LNCAROD,PRKG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005150
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-687P,NEFMP1,MIR548F1,PCDH15
kanduri_15_ASD_discovery_cases-case1869
Maternal
Unknown
Unknown
CSTF2T,DKK1,PRKG1
kanduri_15_ASD_discovery_cases-case1946
Maternal
Unknown
Unknown
PCDH15 (intronic)
krumm_13_ASD_discovery_cases-case11696.p1
Maternal
Simplex
Segregated
MBL2
krumm_13_ASD_discovery_cases-case12997.p1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Not segregated
MBL2
krumm_15_ASD_discovery_cases-case11696.p1
Illumina 1M
Maternal
Simplex
Segregated
MBL2
krumm_15_ASD_discovery_cases-case11792.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MBL2
krumm_15_ASD_discovery_cases-case11962.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR605,RSU1P3,CSTF2T,DKK1,RPL31P44,MBL2,THAP12P3,PRKG1-AS1,LNCAROD,PRKG1
krumm_15_ASD_discovery_cases-case12113.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MBL2
krumm_15_ASD_discovery_cases-case13015.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MBL2
kushima_18_ASD_discovery_cases-caseASD0727
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
Simplex
Unknown
PCDH15
kushima_18_SCZ_discovery_cases-caseSCZ1854
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
Unknown
PCDH15
kushima_22_ASD_discovery_cases-caseASD0175
qRT-PCR
Unknown
PCDH15
kushima_22_ASD_discovery_cases-caseASD0727
qRT-PCR
Unknown
PCDH15
kushima_22_BPD_discovery_cases-caseBD0874
qRT-PCR
Unknown
PCDH15
kushima_22_BPD_discovery_cases-caseBD1005
qRT-PCR
Unknown
PCDH15
kushima_22_BPD_discovery_cases-caseBD1286
qRT-PCR
Unknown
PCDH15
kushima_22_BPD_discovery_cases-caseBD2003
qRT-PCR
Unknown
PCDH15
kushima_22_BPD_discovery_cases-caseBD2006
qRT-PCR
Unknown
PCDH15,MBL2,RNA5SP318,SNRPEP8,LNCAROD,LINC02672
kushima_22_SCZ_discovery_cases-caseSCZ1854
qRT-PCR
Unknown
PCDH15
lesca_12_EP_discovery_cases-case13-19
qPCR
Paternal
Unknown
Unknown
PCDH15
lesca_12_EP_discovery_cases-caseDY64
qPCR
Paternal
Unknown
Unknown
PCDH15
mahjani_22_OCD/CTD_discovery_cases-case17
Unknown
PCDH15,GAPDHP21,MTRNR2L5
mahjani_22_OCD/CTD_discovery_cases-case27
Unknown
PCDH15,GAPDHP21,MTRNR2L5
mahjani_22_OCD/CTD_discovery_cases-case69
Unknown
PCDH15,GAPDHP21,MTRNR2L5
maini_18_ASD/DD/ID_discovery_cases-case_unknown2
Paternal
Unknown
Unknown
monteiro_19_ASD_discovery_cases_case23
Maternal
RNU6-687P,NEFMP1,MIR548F1,PCDH15
nord_11_ASD_discovery_cases-214-1
Maternal
0 genes
nord_11_ASD_discovery_cases-216-1
Maternal
PCDH15
pinto_10_ASD_discovery_cases-case1030_3
Affy5.0
paternal
NA
NA
PCDH15
pinto_10_ASD_discovery_cases-case5526_3
Agilent1M
maternal
NA
NA
PCDH15
pinto_14_ASD_discovery_cases2-case9882_202
qPCR
Maternal
Simplex
(not tested)
GAPDHP21
poultney_13_ASD_discovery_cases-case00HI1659A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MBL2
poultney_13_ASD_discovery_cases-case98HI0555A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MBL2
prasad_12_ASD_discovery_cases-case104196
Unknown
Unknown
Unknown
MTRNR2L5,PCDH15
prasad_12_ASD_discovery_cases-case134102
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case138150L
Unknown
Unknown
Unknown
MTRNR2L5
prasad_12_ASD_discovery_cases-case143189
Unknown
Unknown
Unknown
PCDH15
prasad_12_ASD_discovery_cases-case146442L
Unknown
Unknown
Unknown
BICC1
prasad_12_ASD_discovery_cases-case57224L
Unknown
Unknown
Unknown
IPMK
reinthaler_14_EP_discovery_cases-caseAVRE05
Unknown
Unknown
Unknown
NEFMP1,MIR548F1,PCDH15
sajan_13_ACC/CBLH/PMG_discovery_cases-case1474-0
Not tested by qPCR
Unknown
Unknown
Unknown
PCDH15
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-323
Not tested by qPCR
Unknown
Unknown
Unknown
PCDH15
sanders_11_ASD_discovery_cases-11012.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11027.p1
Unknown
Simplex (quad-proband matched)
Segregated
PCDH15
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11050.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11073.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11110.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11118.p1
Paternal
Simplex (quad-proband matched)
Segregated
PCDH15
sanders_11_ASD_discovery_cases-11121.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11134.p1
Paternal
Simplex (trio)
NA
MTRNR2L5,PCDH15
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC16A9
sanders_11_ASD_discovery_cases-11164.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11197.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11203.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11219.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11220.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11224.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11254.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11276.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
GAPDHP21,PCDH15
sanders_11_ASD_discovery_cases-11325.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11328.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11330.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11339.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11346.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11368.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UBE2D1
sanders_11_ASD_discovery_cases-11444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11444.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11452.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11465.p1
Both parents
Simplex (trio)
NA
PCDH15
sanders_11_ASD_discovery_cases-11475.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11484.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11505.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11505.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11516.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
PRKG1
sanders_11_ASD_discovery_cases-11526.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11530.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11557.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11567.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11575.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11660.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11685.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11696.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MBL2
sanders_11_ASD_discovery_cases-11704.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11792.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MBL2
sanders_11_ASD_discovery_cases-11818.p1
Unknown
Simplex (quad-proband matched)
Not segregated
SLC16A9
sanders_11_ASD_discovery_cases-11827.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11834.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11835.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11855.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11918.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11918.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-11938.p1
Paternal
Simplex (trio)
NA
PCDH15
sanders_11_ASD_discovery_cases-11941.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11981.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12006.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12033.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12113.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MBL2
sanders_11_ASD_discovery_cases-12117.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12130.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12137.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12154.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MBL2
sanders_11_ASD_discovery_cases-12184.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12210.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12238.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12255.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12286.p1
Maternal
Simplex (trio)
NA
PCDH15
sanders_11_ASD_discovery_cases-12289.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12300.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MTRNR2L5,PCDH15
sanders_11_ASD_discovery_cases-12331.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12332.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12362.p1
Maternal
Simplex (trio)
NA
PCDH15
sanders_11_ASD_discovery_cases-12420.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NEFMP1,MIR548F1,PCDH15
sanders_11_ASD_discovery_cases-12485.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12494.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12515.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12548.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12685.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12691.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12758.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12764.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12838.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12871.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12925.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12931.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12984.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PCDH15
sanders_11_ASD_discovery_cases-12997.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MBL2
sanders_11_ASD_discovery_cases-13015.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MBL2
sanders_11_ASD_discovery_cases-13076.p1
Maternal
Simplex (quad-proband matched)
Not segregated
szatmari_07_ASD_discovery_cases-NAAR043-H10-01C06237
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
wang_10_ASD_discovery_cases-AC0045
Unknown
NA
NA
SNRPEP8,RNA5SP318,RNU6-687P,NEFMP1,MIR548F1,MTRNR2L5,GAPDHP21,MIR3924,ZWINT,PCDH15
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case3-0774-000
RT-qPCR or WGS
Unknown
PCDH15
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0148-003
RT-qPCR or WGS
Unknown
PCDH15
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC05185
Not available
Unknown
engchuan_15_ASD_discovery_controls-controlB257988_1007841389
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlB264147_1007873345
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlB322826_1007842114
Unknown
engchuan_15_ASD_discovery_controls-controlB452714_1007872596
Unknown
engchuan_15_ASD_discovery_controls-controlB482145_1007852908
Unknown
engchuan_15_ASD_discovery_controls-controlB581247_1007872544
Unknown
RNA5SP318
engchuan_15_ASD_discovery_controls-controlB631312_1007875286
Unknown
engchuan_15_ASD_discovery_controls-controlB697076_1007841045
Unknown
engchuan_15_ASD_discovery_controls-controlB822754_0057061009
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlB883531_1007844959
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900151_900151
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlHABC_900281_900281
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlHABC_900373_900373
Unknown
MTRNR2L5,PCDH15
engchuan_15_ASD_discovery_controls-controlHABC_900519_900519
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlHABC_900580_900580
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlHABC_900835_900835
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900912_900912
Unknown
RNA5SP318
engchuan_15_ASD_discovery_controls-controlHABC_900981_900981
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901040_901040
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlHABC_901232_901232
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902496_902496
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlHABC_902524_902524
Unknown
PRKG1
engchuan_15_ASD_discovery_controls-controlHABC_902629_902629
Unknown
PCDH15
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
Unknown
kanduri_15_ASD_discovery_controls-control_split1274
Unknown
Intergenic CNV: nearest genes, ZWINT(dist=784035),MIR3924(dist=127686)
kanduri_15_ASD_discovery_controls-control_split1932
Unknown
Intergenic CNV: nearest genes, ZWINT(dist=784035),MIR3924(dist=127686)
kanduri_15_ASD_discovery_controls-control_split279
Unknown
Intergenic CNV: nearest genes, ZWINT(dist=784035),MIR3924(dist=127686)
kanduri_15_ASD_discovery_controls-control_split349
Unknown
PCDH15 (intronic)
krumm_13_ASD_discovery_controls-control12304.s1
Maternal
Simplex
NEFMP1,MIR548F1,PCDH15
krumm_13_ASD_discovery_controls-control12997.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
MBL2
krumm_15_ASD_discovery_controls-control11132.s1
Illumina 1M
Paternal
MBL2
krumm_15_ASD_discovery_controls-control11194.s1
Illumina 1M
De novo
PHYHIPL
krumm_15_ASD_discovery_controls-control11962.s1
Illumina 1MDuo
Maternal
MIR605,RSU1P3,CSTF2T,DKK1,RPL31P44,MBL2,THAP12P3,PRKG1-AS1,LNCAROD,PRKG1
krumm_15_ASD_discovery_controls-control12304.s1
Illumina 1MDuo
Maternal
NEFMP1,MIR548F1,PCDH15
krumm_15_ASD_discovery_controls-control12692.s1
1M-Duov3
Paternal
PCDH15
kushima_18_ASD/SCZ_discovery_controls-controlCON1634
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
PCDH15
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON1634
qRT-PCR
Unknown
PCDH15
nord_11_ASD_discovery_controls-04C27344
0 genes
nord_11_ASD_discovery_controls-04C28226
0 genes
poultney_13_ASD_discovery_controls-control05C41920
Unknown
PCDH15
sanders_11_ASD_discovery_controls-11012.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11014.s1
Maternal
Simplex (quad)
NA
PRKG1-AS1,PRKG1
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11073.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11088.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11088.s1
Unknown
Simplex (quad)
NA
LNCAROD
sanders_11_ASD_discovery_controls-11110.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11132.s1
Paternal
Simplex (quad)
NA
MBL2
sanders_11_ASD_discovery_controls-11160.s1
Both parents
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11164.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11184.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11189.s1
Maternal
Simplex (quad)
NA
PRKG1-AS1,PRKG1
sanders_11_ASD_discovery_controls-11194.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11212.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11219.s1
Both parents
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11220.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11224.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11254.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11291.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11299.s1
Paternal
Simplex (quad)
NA
MBL2
sanders_11_ASD_discovery_controls-11303.s1
Paternal
Simplex (quad)
NA
MTRNR2L5,PCDH15
sanders_11_ASD_discovery_controls-11346.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11353.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11378.s1
Unknown
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11459.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11463.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11470.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11485.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11502.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11505.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11541.s1
Maternal
Simplex (quad)
NA
MBL2
sanders_11_ASD_discovery_controls-11567.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11665.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11685.s1
Both parents
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11765.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11834.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11835.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11855.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11872.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11939.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11981.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12001.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12006.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12030.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12033.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12130.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12154.s1
Both parents
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12220.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12227.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12289.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12300.s1
Paternal
Simplex (quad)
NA
MTRNR2L5,PCDH15
sanders_11_ASD_discovery_controls-12304.s1
Maternal
Simplex (quad)
NA
RNU6-687P,NEFMP1,MIR548F1,PCDH15
sanders_11_ASD_discovery_controls-12358.s1
Both parents
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12372.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12494.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12515.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12561.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12657.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12695.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12780.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12864.s1
Paternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12892.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12977.s1
Maternal
Simplex (quad)
NA
PCDH15
sanders_11_ASD_discovery_controls-12997.s1
Paternal
Simplex (quad)
NA
MBL2
sanders_11_ASD_discovery_controls-13076.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available