7q36.2CNV Type: Deletion-Duplication
Largest CNV size: 1780000 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
Summary Information
CNVs in the 7q36.2 locus in autistic individuals have been identified that include at least part of the DPP6 gene.
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.
Deletion-Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion-Duplication
DPP6 gene disruption in a family with Gilles de la Tourette syndrome.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
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.
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 candidate intergenic risk loci in 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.
Duplication
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
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
75328
1
0
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
4459
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
801622
1
1
2
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
585646
3
8
11
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
22346
2
0
2
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.
834065
1
0
1
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
660463
1
3
4
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
945184
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
596243
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
145848
1
0
1
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
145849
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
21632
1
0
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
600000
0
2
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
662907
1
3
4
liao_13_ID_discovery_cases
Patients with sproadic or familial microcephalic phenotypes whose blood samples were collected after informed consent and study approval by the Guangzhou Women and Children's Medical Center Institutional Review Board
22
Microcephaly with or without intellectual disability (ID)
N/A
N/A
362000
2
0
2
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
526556
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
1780000
1
3
4
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
666439
1
0
1
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
368888
2
1
3
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
1806774
2
1
3
prontera_14_TS/ADHD_discovery_cases
Proband is a 8-year-old from a family with three individuals affected with Tourette syndrome (TS) and ADHD
1
Tourette syndrome (TS) and ADHD; proband was interviewed using the Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL) and assessed using a measure of attention ("bells test").
8 yrs.
Male
135000
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
792436
0
1
1
rosenfeld_10_non-ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
21219
Controls (no diagnosis or indication of ASD)
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
219442
0
2
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
664137
11
5
16
tammimies_15_ASD_discovery_cases
Consecutively ascertained unrelated children with ASD recruited between 2008 and 2013 in Newfoundland and Labrador, Canada
258
Diagnosis of ASD based on DSM-IV-TR criteria and confirmed by ADOS and ADI-R assessments
4.5 2.8 yrs.
83.72% Male
69162
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
46277
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
1799635
3
3
6
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
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
0
0
0
0
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
584624
0
7
7
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.
834065
0
0
0
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
289411
0
1
1
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
272462
0
3
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
94224
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
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
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
132215
0
2
2
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)
1806774
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.
131905
5
1
6
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
46277
N/A
N/A
N/A
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
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
qPCR
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
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)
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
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
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
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
liao_13_ID_discovery_cases
China
Array SNP
Affymetrix GeneChip Cytoscan HD
Affymetrix ChAS v.1.2.2
qRT-PCR
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
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
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
prontera_14_TS/ADHD_discovery_cases
Italian
aCGH
BluGnome Cytochip 4x180K
Array SNP (Affymetrix CytoScan HD), FISH
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
rosenfeld_10_non-ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
tammimies_15_ASD_discovery_cases
Canada
aCGH, array SNP, solid phase hybridization
One or more of the following: Affymetrix 6.0, Illumina Omni2.5M-Quad, Illumina 1M, Agilent 1M, Affymetrix CytoScan HD, Illumina 1M Duo, custom Agilent 4x44K, or custom OGT 4x180K
QuantiSNP, PennCNV, iPattern, DNAcopy, Partek
Affymetrix ChAS, Agilent DNA Analytics v 4.0 or v4.0.85, Nexus BioDiscovery, Agilent Feature Extract
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
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
egger_14_ASD_discovery_controls
European
N/A
N/A
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
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
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_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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_cases-caseAB57
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
154175237
154250564
75328
GRCh38
Deletion
No
costa_21_ASD_discovery_cases-caseP16
NA
M
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: neonatal hypotonia, jaundice.
154301245
154305703
4459
GRCh38
Deletion
Yes
egger_14_ASD_discovery_cases-caseA210
10 yrs. (born 2004)
M
ASD
Diagnosis: Asperger syndrome. Co-morbidities/additional features: none reported. Family history: mother and brother show autistic features (brother's DNA not available for testing). CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, 52% overlap in DGV.
Normal IQ
153581740
154383361
801622
GRCh38
Duplication
Yes
egger_14_ASD_discovery_cases-caseA35
N/A
N/A
ASD
CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
154134791
154201838
67048
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14123_2170
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153825055
153950146
125092
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20163_1672002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153245595
153785936
540342
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3520_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153245595
153831241
585647
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4151_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153790859
154118952
328094
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4371_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
153245595
153831241
585647
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4535_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
154028170
154260016
231847
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5130_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
154414157
154460434
46278
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5370_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
154447568
154516729
69162
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case6370_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
152898767
153052512
153746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8438_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
155113542
155150899
37358
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case9749_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
155112874
155163953
51080
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU004104
Autism
153642917
153665262
22346
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU004105
Autism
153642917
153665262
22346
Unknown
Deletion
No
girirajan_11_ASD_discovery_cases-Si132
16
F
Autism
ADOS score: NA. Vineland composite score: 72.
No mental retardation/intellectual disability. Full-scale IQ, 115; Verbal IQ, 117; Non-verbal IQ, 113.
154123551
154862991
739441
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11843.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
154262901
154828739
565839
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-12351.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
154060640
154240995
180356
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU025803
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
153789978
153963015
173038
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU079104
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
153756768
153954388
197621
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005008
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153540271
154126004
585734
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005094
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153590855
154126004
535150
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005147
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
153540071
154485255
945185
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11843.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
154305494
154807112
501619
GRCh38
Deletion
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1841
21 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
153822158
153968005
145848
GRCh38
Deletion
N/A
kushima_22_SCZ_discovery_cases-caseSCZ1841
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
153822157
153968005
145849
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case16
5 yrs.
F
Developmental delay
Developmental delay, mitochondrial disorder
154268707
154290339
21633
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU2232301
N/A
M
ASD
153356915
153922915
566001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU2232302
N/A
F
ASD
153356915
153922915
566001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11132.p1
NA
M
ASD
NA
NA
153824876
153957090
132215
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11399.p1
NA
M
ASD
NA
NA
153824876
153957090
132215
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11843.p1
NA
F
ASD
NA
NA
154262869
154831150
568282
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12185.p1
NA
M
ASD
NA
NA
153823205
153957090
133886
GRCh38
Duplication
No
liao_13_ID_discovery_cases-caseBY0712
12 yrs.
M
ID and microcephaly
Growth parameters: small stature (110 cm, <-3 SD); low body weight (29 kg, <-3 SD); microcephaly (OFC of 47 cm, <-3 SD). Unable to concentrate on work, able to only speak single words with ambiguous pronunciation. Skeletal radiographs showed delayed bone age.
Moderate intellectual disability
153952692
154288910
336219
GRCh38
Deletion
Yes
liao_13_ID_discovery_cases-caseBY2018
15 yrs.
F
ID and microcephaly
Growth parameters: small stature (130 cm, <-3 SD); low body weight (30.5 kg, <-3 SD); microcephaly (OFC of 48 cm, <-3 SD). Able to only speak single words with ambiguous pronunciation. Scoliosis, congenital amblyopia resulting from chorioretinal degeneration.
Moderate intellectual disability
154132301
154494599
362299
GRCh38
Deletion
Yes
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case46
6 yrs
F
Non-NDD
Short stature. Family history: neuropsychiatric phenotype of carrier parent (mother) is unknown.
153833292
154359847
526556
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0002-000
NA
M
ASD
RL/EL severe delay, severe repetitive behavior
IQ/LOF Unkown
154450267
154516729
66463
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0058-003
NA
M
ASD
Mild repetititve behavior
IQ/LOF 111
154405012
154421800
16789
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0115-003
NA
M
ASD
Moderate repetitive behavior
IQ/LOF 86
153963267
154237267
274001
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0190-003
NA
M
ASD
RL/EL severe delay, moderate speech unintelligibility, mild repetitive behavior
IQ/LOF 55
153563267
155248642
1685376
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case11843.p1
NA
F
ASD/Autism
Case also identified with de novo LTN1 nonsense mutation and de novo SESN2 missense mutation. No additional clinical info available.
High IQ. Non verbal IQ, 113
154260016
154831830
571815
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5014_4
NA
M
ASD
Below average language (1%ile), no epilepsy, no dysmorphic features
Normal IQ
153118877
153487764
368888
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5130_3
NA
M
Autism
Oxygen deprivation at birth, tonic clonic seizures from birth to age 6 m, treated with phenobarbital until age 18 m, seizure free since then; right ptosis, no dysmorphic features
Average IQ
154414157
154460434
46278
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5370_3
NA
M
Autism
No epilepsy, no dysmorphic features, brain CT normal
NA
154447568
154516729
69162
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case140054L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
152883290
154690063
1806774
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case52026
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
153775346
153846054
70709
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60701L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
153742006
153792979
50974
Unknown
Deletion
No
prontera_14_TS/ADHD_discovery_cases-case1
8 yrs.
M
TS and ADHD
Case diagnosed with Tourette syndrome and ADHD; case tested positive for chronic and multiple motor and vocal tics and for ADHD on the Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version (K-SADS-PL); a measure of attention ("bells test") showed -2.3 SD and -3.8 SD scores in the "rapidity" and "accuracy tasks, respectively, which were consistent with a clinical diangosis of ADHD. Birth/neonatal history: born at 40 weeks after spontaneous delivery following normal pregnancy; birth weight of 3,050 g (25th-50th %ile), length of 49 cm (50th %ile), and OFC of 35 cm (50th-75th %ile). Developmental milestones: normal neuromotor development until the age of 3 years (first developed active behavior and attention deficit). Behavioral/psychiatric evaluation: first motor tics (mainly involuntary movements of head and neck), accompanied by involuntary vocalizations, at age of 4 years; tics were characteristically preceded by premonitory urges and tended to follow a waxing and waning course over time; complex tics (coprophenomena or echophenomena) not observed. Neurological evaluation: bilateral limb dysmetria and positive Babinski sign on the right. EEG: normal. Brain imaging: normal brain MRI. Vision and hearing evaluation: normal visual and acoustic evoked potentials. Family history: father positive for chronic tic disorder and ADHD in relation to past scoring, and for transient tic disorder in relation to current scoring (K-SADS-PL), carries DPP6 deletion; paternal uncle positive for complex motor and vocal tics and for ADHD, in relation to past scoring, and for transient tic disorder, in relation to current scoring (K-SADS-PL), carries DPP6 deletion; deceased paternal grandfather described as hyperactive showing eye tics; patient's mother and paternal grandmother negative on all K-SADS-PL scores (no tics).
Full-scale IQ of 114, verbal IQ of 109, performance IQ of 116 (at age of 7 years)
153827056
153962390
135335
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case12628
NA
NA
ASD
NA
NA
152918872
153711308
792436
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1250-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: no.
154830747
154903843
73097
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1400-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: yes.
Developmental delay: yes. Intellectual disability: no.
153790859
154010300
219442
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
155093527
155097474
3948
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11132.p1
4.3
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
153825055
153965066
140012
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11270.p1
6
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 49; verbal IQ, 47
153449820
153767880
318061
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
154452517
154472620
20104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11399.p1
11.9
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
153825055
153956960
131906
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
155093527
155097474
3948
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
155093527
155098575
5049
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11551.p1
15.5
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
155085281
155088631
3351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11612.p1
10.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 90; verbal IQ, 79
155113542
155163953
50412
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11782.p1
5.3
F
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 59; verbal IQ, 64
155085281
155088631
3351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
154262770
154832282
569513
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
154466739
154472620
5882
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
155093527
155096155
2629
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
155093527
155097474
3948
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12350.p1
11.8
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 102; verbal IQ, 61
153659347
153677903
18557
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12740.p1
4.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 113; verbal IQ, 131
152884023
152908641
24619
GRCh38
Deletion
No
tammimies_15_ASD_discovery_cases-case3-0002-000
4 yrs.
M
ASD
No dysmorphic features. At time of diagnosis, almost no speech; at age of 4 years, 100 single words.
154447568
154516729
69162
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case2-0272-003
N/A
M
ASD
N/A
N/A
154414157
154460434
46278
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0190-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
153563315
155268324
1705010
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0882-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
153827057
153951623
124567
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0272-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
154413585
154465282
51698
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case229190S
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): Learning disability, separation anxiety disorder, adjustment disorder with disturbance in mood secondary to bullying
154124368
154520093
395726
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case235983S
N/A
M
ADHD
Primary diagnosis: ADHD. Additional phenotype(s): no additional phenotypes reported
153828174
153951623
123450
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD146-JS-1254_188613
N/A
M
ADHD and OCD
Primary diagnosis: OCD. Additional phenotype(s): ADHD (inattentive subtype), and a Tourettes disorder with tic
154360079
154474679
114601
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-controlB589516_1007872578
N/A
N/A
Control
No previous psychiatric history
153779055
154023805
244751
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB981601_1007842471
N/A
N/A
Control
No previous psychiatric history
153245595
153830219
584625
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB993989_1007854998
N/A
N/A
Control
No previous psychiatric history
153825055
153988741
163687
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900082_900082
N/A
N/A
Control
No previous psychiatric history
154830937
154944367
113431
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900082_900082
N/A
N/A
Control
No previous psychiatric history
155112360
155150899
38540
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900082_900082
N/A
N/A
Control
No previous psychiatric history
155172684
155228515
55832
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
N/A
N/A
Control
No previous psychiatric history
154168667
154218810
50144
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_controls1-control10
N/A
N/A
Control
N/A
N/A
153767620
154057031
289412
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1069
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
153522175
153707385
185211
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1552
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
153523345
153631648
108304
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split164
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
153522175
153794636
272462
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control14245.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
154853779
154948003
94225
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11132.s1
NA
M
Control
NA
NA
153824876
153957090
132215
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12185.s1
NA
F
Control
NA
NA
153824876
153957090
132215
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
155093527
155097474
3948
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
155093527
155097474
3948
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11132.s1
10.7
M
Control (matched sibling)
NA
NA
153825055
153956960
131906
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
155093527
155097474
3948
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
155093527
155097474
3948
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
155093527
155097474
3948
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-caseAB57
Maternal
Simplex
DPP6
costa_21_ASD_discovery_cases-caseP16
qPCR
Unknown
DPP6
egger_14_ASD_discovery_cases-caseA210
qPCR
Possibly maternal
Paternal
Possibly multi-generational
Unknown
DPP6
egger_14_ASD_discovery_cases-caseA35
Unknown
Unknown
DPP6
engchuan_15_ASD_discovery_cases-case14123_2170
Unknown
DPP6
engchuan_15_ASD_discovery_cases-case20163_1672002
Unknown
PAXBP1P1,LINC01287
engchuan_15_ASD_discovery_cases-case3520_3
Unknown
PAXBP1P1,LINC01287
engchuan_15_ASD_discovery_cases-case4151_1
Unknown
DPP6
engchuan_15_ASD_discovery_cases-case4371_1
Unknown
PAXBP1P1,LINC01287
engchuan_15_ASD_discovery_cases-case4535_1
Unknown
DPP6
engchuan_15_ASD_discovery_cases-case5130_3
Unknown
DPP6
engchuan_15_ASD_discovery_cases-case5370_3
De novo
DPP6
engchuan_15_ASD_discovery_cases-case6370_3
Unknown
engchuan_15_ASD_discovery_cases-case8438_202
Unknown
engchuan_15_ASD_discovery_cases-case9749_201
Unknown
gai_11_ASD_replication_cases-AU004104
Inherited
DPP6 (intronic)
gai_11_ASD_replication_cases-AU004105
Inherited
DPP6 (intronic)
girirajan_11_ASD_discovery_cases-Si132
Maternal
Simplex
DPP6
girirajan_13a_ASD_discovery_cases-11843.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DPP6
girirajan_13a_ASD_discovery_cases-12351.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
DPP6
girirajan_13a_ASD_discovery_cases-AU025803
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
DPP6
girirajan_13a_ASD_discovery_cases-AU079104
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
DPP6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005008
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DPP6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005094
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
DPP6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005147
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DPP6
krumm_15_ASD_discovery_cases-case11843.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
DPP6
kushima_18_SCZ_discovery_cases-caseSCZ1841
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
DPP6
kushima_22_SCZ_discovery_cases-caseSCZ1841
qRT-PCR
Unknown
DPP6
lee_17_ASD/DD/ID/MCA_discovery_cases-case16
Unknown
DPP6
leppa_16_ASD_discovery_cases-AU2232301
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
PAXBP1P1,LINC01287,DPP6
leppa_16_ASD_discovery_cases-AU2232302
Maternal
Multiplex
Segregated (CNV present in both affected siblings)
PAXBP1P1,LINC01287,DPP6
levy_11_ASD_discovery_cases-11132.p1
Maternal
Simplex
Not segregated
DPP6
levy_11_ASD_discovery_cases-11399.p1
Paternal
Simplex
Segregated
DPP6
levy_11_ASD_discovery_cases-11843.p1
Maternal
Simplex
Possibly segregated
DPP6
levy_11_ASD_discovery_cases-12185.p1
Paternal
Simplex
Not segregated
DPP6
liao_13_ID_discovery_cases-caseBY0712
qRT-PCR
De novo
Unknown
Possibly segregated
DPP6
liao_13_ID_discovery_cases-caseBY2018
qRT-PCR
De novo
Unknown
Possibly segregated
DPP6
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case46
Maternal
DPP6
marshall_08_ASD_discovery_cases-NA0002-000
qPCR, qmPCR
De novo
Simplex
NA
DPP6
marshall_08_ASD_discovery_cases-SK0058-003
qPCR, qmPCR
Maternal
Multiplex
NA
DPP6
marshall_08_ASD_discovery_cases-SK0115-003
qPCR, qmPCR
Unknown
Simplex
NA
DPP6
marshall_08_ASD_discovery_cases-SK0190-003
qPCR, qmPCR
Maternal
Simplex
NA
PAXIP1-AS1,HTR5A-AS1,RN7SKP280,PAXIP1-AS2,PAXIP1,HTR5A,DPP6
o'roak_12_ASD_discovery_cases-case11843.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
DPP6
pinto_10_ASD_discovery_cases-case5014_4
qPCR
paternal
Multiplex
Unknown
DPP6 exonic
pinto_10_ASD_discovery_cases-case5130_3
qPCR-Paternal,Agilent1M
paternal
Multiplex
Segregated
DPP6
pinto_10_ASD_discovery_cases-case5370_3
qPCR-Denovo,Affy500K,Agilent1M
De novo
Simplex
NA
DPP6
prasad_12_ASD_discovery_cases-case140054L
Unknown
Unknown
Unknown
HTR5A,LOC100132707,LOC202781,DPP6,PAXIP1
prasad_12_ASD_discovery_cases-case52026
Unknown
Unknown
Unknown
DPP6
prasad_12_ASD_discovery_cases-case60701L
Unknown
Unknown
Unknown
DPP6
prontera_14_TS/ADHD_discovery_cases-case1
Array SNP (Affymetrix CytoScan HD), FISH
Paternal
Paternal
Multi-generational
Segregated
DPP6
Reduced DPP6 mRNA expression
rosenfeld_10_ASD_discovery_cases-case12628
FISH
Maternal
Unknown
Unknown
DPP6
sajan_13_ACC/CBLH/PMG_discovery_cases-case1250-0
Not tested by qPCR
Unknown
Unknown
Unknown
DPP6
sajan_13_ACC/CBLH/PMG_discovery_cases-case1400-0
Not tested by qPCR
Unknown
Unknown
Unknown
DPP6
sanders_11_ASD_discovery_cases-11033.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11132.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DPP6
sanders_11_ASD_discovery_cases-11270.p1
Paternal
Simplex (quad-proband matched)
Segregated
PAXBP1P1
sanders_11_ASD_discovery_cases-11375.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DPP6
sanders_11_ASD_discovery_cases-11399.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DPP6
sanders_11_ASD_discovery_cases-11475.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11549.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11551.p1
Paternal
Simplex (quad-proband matched)
Not segregated
HTR5A
sanders_11_ASD_discovery_cases-11612.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11782.p1
Maternal
Simplex (trio)
NA
HTR5A
sanders_11_ASD_discovery_cases-11843.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DPP6
sanders_11_ASD_discovery_cases-11869.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DPP6
sanders_11_ASD_discovery_cases-11941.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12117.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12350.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12740.p1
Maternal
Simplex (trio)
NA
tammimies_15_ASD_discovery_cases-case3-0002-000
De novo
Unknown
Possibly segregated
DPP6
walker_13_ASD_discovery_cases-case2-0272-003
Unknown
Multiplex
Unknown
DPP6
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0190-003
RT-qPCR or WGS
Maternal
PAXIP1-AS1,HTR5A-AS1,RN7SKP280,PAXIP1-AS2,PAXIP1,HTR5A,DPP6
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0882-003
RT-qPCR or WGS
Unknown
DPP6
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-0272-003
RT-qPCR or WGS
Paternal
DPP6
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case229190S
RT-qPCR or WGS
Unknown
DPP6
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case235983S
RT-qPCR or WGS
Unknown
DPP6
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD146-JS-1254_188613
RT-qPCR or WGS
Maternal
DPP6
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB589516_1007872578
Unknown
DPP6
engchuan_15_ASD_discovery_controls-controlB981601_1007842471
Unknown
PAXBP1P1,LINC01287
engchuan_15_ASD_discovery_controls-controlB993989_1007854998
Unknown
DPP6
engchuan_15_ASD_discovery_controls-controlHABC_900082_900082
Unknown
PAXIP1-AS2,PAXIP1,DPP6
engchuan_15_ASD_discovery_controls-controlHABC_900082_900082
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900082_900082
Unknown
RN7SKP280
engchuan_15_ASD_discovery_controls-controlHABC_902659_902659
Unknown
DPP6
girirajan_13a_ASD_discovery_controls1-control10
Unknown
DPP6
kanduri_15_ASD_discovery_controls-control_split1069
Unknown
DPP6
kanduri_15_ASD_discovery_controls-control_split1552
Unknown
DPP6
kanduri_15_ASD_discovery_controls-control_split164
Unknown
DPP6
krumm_15_ASD_discovery_controls-control14245.s1
Omni2.5-4v1
Paternal
PAXIP1-AS2,PAXIP1,DPP6
levy_11_ASD_discovery_controls-11132.s1
Maternal
Simplex
NA
DPP6
levy_11_ASD_discovery_controls-12185.s1
Paternal
Simplex
NA
DPP6
sanders_11_ASD_discovery_controls-11033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11041.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11132.s1
Maternal
Simplex (quad)
NA
DPP6
sanders_11_ASD_discovery_controls-11549.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available