3q26.1CNV Type: Deletion-Duplication
Largest CNV size: 543367 bp
Statistics Box:
Number of Reports: 24
Number of Reports: 24
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic 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
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
Deletion
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion-Duplication
Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother.
Deletion
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion-Duplication
Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
73928
2
0
2
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
509222
3
0
3
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
24283
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
504000
1
0
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
402887
0
5
5
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
2030348
2
1
3
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
20475
1
0
1
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
113324
2
0
2
li_18_ASD_discovery_cases
Children from 13 ASD trio families recruited at the Department of Pediatrics of the Chinese PLA General Hospital for Autism Research
13
Diagnosis of ASD made according to DSM-IV
Mean age, 4.56 0.97 years
92.31% Male
221926
1
0
1
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
408000
2
0
2
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
457000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
15910
2
0
2
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
104607
1
1
2
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
543367
5
2
7
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
164929
2
1
3
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
154136
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
542084
88
10
98
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
71704
0
1
1
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
18804
1
0
1
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
104548
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
977000
1
1
2
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
164661
0
1
1
tabet_12_ASD_discovery_cases
Three affected siblings from an autism multiplex family born to non-consanguineous parents.
3
Autism. Diagnosis based on ADI-R, ADOS, and CARS evaluations.
Range, 17 yrs. 6 mos.-21 yrs.
100% Male
81247
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
112847
1
1
2
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
105040
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
24977
4
0
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
605805
1
0
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
24386
2
2
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
96651
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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.
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)
164929
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.
542084
73
14
87
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
164661
0
1
1
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
24977
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
li_18_ASD_discovery_cases
Chinese
Low-coverage WGS
Illumina HiSeq 2000 or 2500 analyzers
PSCC
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
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
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
tabet_12_ASD_discovery_cases
Mixed ethnic background (father Caucasian, mother from Mauritius)
Solid phase hybridization
Illumina HumanCNV370-Duo BeadChip
CNVPartition v3.1.1, Penn CNV
BeadStudio v3.2
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
162795349
162828429
33081
GRCh38
Deletion
No
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
162834268
162908195
73928
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU057503
Autism
163919796
163987015
67220
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU069303
Autism
165271025
165780246
509222
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU069304
Autism
165271025
165780246
509222
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case535-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
164371151
164395434
24284
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13722.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
160949518
161449518
500001
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-25505102977
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
162783023
163185910
402888
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-40208110630
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
162816689
163118930
302242
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-59704102165
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
162816689
163185910
369222
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-60104102183
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
162816689
163185910
369222
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-63205104572
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
162783023
163084944
301922
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003789
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
161083963
163114311
2030349
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004728
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
160060060
160985414
925355
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005158
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
166493319
166941997
448679
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11450.p1
NA
M
ASD
NA
NA
164452142
164472616
20475
GRCh38
Deletion
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
162794869
162906093
111225
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
162794869
162908192
113324
GRCh38
Deletion
No
li_18_ASD_discovery_cases-case6101
N/A
F
ASD
Diagnosis of ASD made according to DSM-IV
161841473
162063399
221927
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown151
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)
163007690
163265405
257716
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown152
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)
163007690
163415727
408038
GRCh38
Deletion
No
morrow_08_ASD_discovery_cases-case7301
NA
ASD
NA
NA
163975000
164432000
457000
Unknown
Deletion
No
nord_11_ASD_discovery_cases-204-1
ASD
161839944
161849825
9882
Unknown
Deletion
No
nord_11_ASD_discovery_cases-207-1
ASD
167529293
167545202
15910
Unknown
Deletion
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
N/A
M
ASD and ADHD
Case diagnosed with high functioning ASD (RAADS-R score of 123) and ADHD. Developmental milestones: normal motor development; delay in expressive language with difficulties in abstract processing and visual information. Family history: older brother with non-verbal low-functioning ASD; mother suffered from major depression, generalized anxiety disorder, and meningioma; maternal cousin with autism, language delay, and epilepsy associated with intellectual disability; two maternal uncles with gliomas involving the corpus callosum; mother's nephew with hemophilia; paternal grandmother with ill-defined psychiatric disorder.
TIQ score of 109
162796746
162901353
104608
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
N/A
F
Intellectual disability and ADHD
Developmental milestones: motor delay; language delay. Motor and musculoskeletal evaluation: dyspraxia; strabismus. Behavioral/psychiatric evaluation: ADHD; some stereotypic behaviors. Brain imaging: delayed myelination detected on brain MRI. Family history: mild cognitive impairment and langauge delay in the father's cousin's daughter; sister of his maternal grandmother developed a brain tumor.
Mild intellectual disability (Leiter-R IQ score of 60)
162832028
162908227
76200
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case1213_3
NA
M
ASD
NA
NA
163613385
163709228
95844
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case1258_4
NA
M
ASD
NA
NA
165273764
165817130
543367
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case13046_553
NA
M
Autism
Verbal
Normal IQ
164004033
164101579
97546
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case13108_1253
NA
M
Autism
Verbal
Borderline IQ
164004033
164101579
97547
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5120_3
NA
M
ASD
NA
NA
163352358
163442323
89966
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case5427_3
NA
M
ASD
NA
NA
165144226
165187383
43158
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5430_4
NA
M
ASD
NA
NA
167268686
167424307
155622
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case115533
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
165126285
165244506
118222
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case61028L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
165558301
165570081
11781
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case69002
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
167263707
167428635
164929
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1071-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: no. Intellectual disability: yes.
162990190
163144325
154136
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
162490274
162511796
21523
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11028.p1
9
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
166590755
166745006
154252
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
162652075
162682832
30758
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
165557987
165608677
50691
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11107.p1
6.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 37; verbal IQ, 25
165547401
165550120
2720
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
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11245.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
160963826
160966932
3107
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11250.p1
14.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 124; verbal IQ, 86
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11254.p1
9.8
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 94; verbal IQ, 48
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11345.p1
6.1
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11360.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11394.p1
5.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11396.p1
13.6
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
165323075
165380320
57246
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11410.p1
6.6
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
162990190
163182142
191953
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11421.p1
7.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 73; verbal IQ, 51
165323075
165366755
43681
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11450.p1
5.8
M
ASD
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 82
164452363
164464934
12572
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11538.p1
5.8
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
161700078
161829856
129779
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
165547401
165571636
24236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11561.p1
5.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
164049946
164108574
58629
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11575.p1
11.8
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11600.p1
14.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 112; verbal IQ, 99
165547401
165550120
2720
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11616.p1
10.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 129; verbal IQ, 113
164693747
164709918
16172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11679.p1
6.4
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 106; verbal IQ, 84
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
162387694
162424687
36994
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11709.p1
6.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 62; verbal IQ, 59
162490065
162511796
21732
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
165547401
165571636
24236
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
162151876
162238888
87013
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11888.p1
4
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
166338613
166660923
322311
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11888.p1
4
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
166060214
166096812
36599
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11894.p1
5.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 125
165547401
165550120
2720
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11901.p1
10.3
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 27
160609801
160618423
8623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
163940569
163947429
6861
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11916.p1
4.8
F
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
165547401
165571636
24236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11935.p1
5.3
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12057.p1
12.1
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12072.p1
15.6
F
Autism
NA
Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
161700078
161836523
136446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12099.p1
8
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
161700078
161829856
129779
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
162136431
162136930
500
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12189.p1
8.8
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 87; verbal IQ, 78
165547401
165571636
24236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
165324003
165380320
56318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12212.p1
12.3
M
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 20
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
161960322
161988746
28425
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12224.p1
4.3
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
165323075
165359625
36551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
165366755
165381125
14371
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12243.p1
12
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
161700078
161838426
138349
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
163943744
163947429
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
166849867
166862213
12347
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12274.p1
5.4
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 30
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12297.p1
15
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 89
165324003
165359625
35623
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
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12347.p1
8.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12360.p1
6.8
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
163275332
163304758
29427
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12370.p1
8.2
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 127; verbal IQ, 123
165486555
165688241
201687
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12385.p1
13.6
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12420.p1
7.8
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 132; verbal IQ, 123
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12423.p1
10.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12494.p1
7.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
163943744
163947429
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12524.p1
6.4
F
Autism
NA
Full-scale IQ, 146; non-verbal IQ, 130; verbal IQ, 166
165323075
165359625
36551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
163943744
163947429
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12541.p1
6.5
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 133; verbal IQ, 108
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12614.p1
6.1
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12621.p1
5.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 96
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12626.p1
16.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 111; verbal IQ, 76
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12637.p1
7.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
163943744
163947429
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
165541222
165571636
30415
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12650.p1
6.4
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 100; verbal IQ, 109
166068204
166227968
159765
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12703.p1
12.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 58; verbal IQ, 61
165324003
165380320
56318
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12723.p1
6.7
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12796.p1
5.2
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
160300736
160320116
19381
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12828.p1
9.3
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12838.p1
4.7
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12888.p1
5.5
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 19
165547401
165571636
24236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12941.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12997.p1
9.6
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
162312000
162854084
542085
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12998.p1
4.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 116; verbal IQ, 93
164383405
164391589
8185
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
165547401
165571636
24236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13035.p1
4.8
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13048.p1
12.9
F
Autism
NA
Full-scale IQ, 35; non-verbal IQ, 40; verbal IQ, 26
164452363
164605395
153033
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13082.p1
6
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 67; verbal IQ, 61
163943744
163946497
2754
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
165547401
165571636
24236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13169.p1
13.4
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13322.p1
16.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 56
165324003
165359625
35623
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
162835966
162907669
71704
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
162808639
162827442
18804
GRCh38
Deletion
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
163997228
164101776
104548
Unknown
Deletion
No
soueid_16_ASD_discovery_cases-caseLAS15
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
165485782
165688968
203187
GRCh38
Duplication
No
soueid_16_ASD_discovery_cases-caseSAI31
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
162464393
163441160
976768
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family53_Twin_2
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
163011375
163176035
164661
GRCh38
Duplication
No
tabet_12_ASD_discovery_cases-patient2
17 yrs. 6 mos.
M
Autism
Clinical diagnosis of autism. ADI-R evaluation (at 3 yrs. 2 mos.): social score, 23; communication score, 14 (non-verbal); repetitive behavior, 4; onset, 4; diagnosis of autism. ADOS module 1 evaluation (at 18 yrs. 5 mos.): communication, 6; social interaction, 14; total; 20; play, 4; interesta and behavior, 8; diagnosis of autism. CARS evaluation (at 10 yrs. 3 mos.): composite score of 37; diagnosis of mild-moderate autism. VABS II evaluation (at 18 yrs. 5 mos.): communication, 11; daily living, 23; socialization, 1; maladaptive behaviors, 20. Developmental milestones: normal development followed by regression at 26 mo; language regression at 26 mo; non verbal. Neurological evaluation: hyporeflexia, no motor deficit. Other behaviors: not fully toilet trained, hyperactivity, short and agitated sleep . Brain MRI: white matter hyperintensities, moderate cortical atrophy and thin corpus callosum. Dysmorphic features & malformations: triangular face, broad forehead, prominent orbital ridge, deep set eyes, upslanting palpebral fissures, thick upslant eyebrows, myopia, strabismus, large, prominent nasal bridge, wide, bulbous tip, anteverted nares, everted lower lip, tented philtrum wide cupid's bow, overbite, retrognathia with marked chin, backward tilted ears, ventricular septal defect (VSD), slender habitus, sternum deformity, mild scoliosis, cubitus valgus, long fingers and toes, bilateral single palmar creases and sandal gap. Growth parameters: height, 173 cm (normal range); weight, 49 kg (-2 SD); head circumference, 55 cm (-1 SD). Recurrent infections: recurrent otitis, nose and throat infections in childhood. Family history: monozygotic twin brother with autism; older brother with autism; brother with severe intellectual disability and epilepsy who died at 42 yrs.; father declined neuropsychological evaluation but was described as being non-talkative, introverted, and having few social relationships; negative maternal personal and family history.
Severe intellectual disability. Ravens Colored Progressive Matrices (RCPM) at 18 yrs 4 mos.: full-scale IQ <1st %ile
162803551
162884798
81248
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
162795361
162908207
112847
GRCh38
Duplication
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
162837065
162901097
64033
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
162796314
162901353
105040
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case153
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
162769881
162794857
24977
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case154
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
162769881
162794857
24977
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case155
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
162769881
162794857
24977
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case156
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
162908195
162910814
2620
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_13b_ASD_discovery_controls-57305104494
N/A
N/A
Control
Ethnicity: Caucasian
N/A
162715173
163320978
605806
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1516
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
166522847
166531981
9135
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1593
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
163658357
163664285
5929
Unknown
Deletion
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
162130691
162155076
24386
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split2103
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
162130691
162142475
11785
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control12794.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
164979361
165076012
96652
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13583.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
164979361
165076012
96652
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11028.s1
12.9
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11033.s1
6.8
F
Control (matched sibling)
NA
NA
164985165
164988854
3690
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11051.s1
9.6
F
Control (matched sibling)
NA
NA
162977695
163382173
404479
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11094.s1
12.2
M
Control (matched sibling)
NA
NA
165547401
165550120
2720
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
165304446
165359625
55180
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
167442043
167518050
76008
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11106.s1
7.2
M
Control (matched sibling)
NA
NA
166805059
166815639
10581
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11107.s1
3.7
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11110.s1
16.8
M
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11148.s1
12.2
F
Control (matched sibling)
NA
NA
165323075
165359625
36551
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11201.s1
10.6
M
Control (matched sibling)
NA
NA
162151876
162227323
75448
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11245.s1
14.1
M
Control (matched sibling)
NA
NA
160963826
160966932
3107
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11250.s1
12.7
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11289.s1
8
M
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11345.s1
8
M
Control (matched sibling)
NA
NA
165040842
165108176
67335
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11367.s1
4.6
F
Control (matched sibling)
NA
NA
162446838
162511796
64959
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11396.s1
6.6
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11424.s1
6.8
F
Control (matched sibling)
NA
NA
166805059
166815639
10581
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11439.s1
4.8
M
Control (matched sibling)
NA
NA
164568429
164587834
19406
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11450.s1
12.5
F
Control (matched sibling)
NA
NA
166805059
166814193
9135
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11475.s1
5.5
F
Control (matched sibling)
NA
NA
165547401
165585353
37953
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
163943744
163947429
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11536.s1
4.2
F
Control (matched sibling)
NA
NA
164996744
165072097
75354
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11550.s1
6.6
F
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11561.s1
8.9
M
Control (matched sibling)
NA
NA
164049946
164108574
58629
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
165323075
165359625
36551
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11571.s1
6.3
F
Control (matched sibling)
NA
NA
162151876
162238888
87013
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11600.s1
19.2
M
Control (matched sibling)
NA
NA
165547401
165550120
2720
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
164507362
164535435
28074
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11869.s1
5.5
F
Control (matched sibling)
NA
NA
166805059
166815639
10581
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11883.s1
6.1
F
Control (matched sibling)
NA
NA
161700078
161829856
129779
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11894.s1
4.2
M
Control (matched sibling)
NA
NA
165547401
165550120
2720
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11901.s1
7.5
F
Control (matched sibling)
NA
NA
160609801
160618423
8623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11916.s1
6.9
F
Control (matched sibling)
NA
NA
164693747
164714889
21143
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11935.s1
6.2
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11940.s1
6.5
M
Control (matched sibling)
NA
NA
163792407
163935677
143271
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12056.s1
7.5
M
Control (matched sibling)
NA
NA
165771674
165828928
57255
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
163943744
163946497
2754
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12091.s1
7.2
M
Control (matched sibling)
NA
NA
166810363
166815639
5277
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12099.s1
13.1
M
Control (matched sibling)
NA
NA
161700078
161829856
129779
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
162136431
162136930
500
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12161.s1
7.7
F
Control (matched sibling)
NA
NA
165547401
165550120
2720
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12189.s1
6.7
F
Control (matched sibling)
NA
NA
165547401
165594318
46918
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12212.s1
12.3
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12229.s1
7.8
F
Control (matched sibling)
NA
NA
165366755
165381125
14371
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12243.s1
13.5
M
Control (matched sibling)
NA
NA
161700078
161829856
129779
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
163943744
163947429
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
165547401
165571636
24236
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
162151876
162238888
87013
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12329.s1
6.3
M
Control (matched sibling)
NA
NA
165350331
165373690
23360
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12347.s1
7.3
F
Control (matched sibling)
NA
NA
165324003
165366755
42753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12396.s1
11.2
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12420.s1
4.7
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
163943744
163947429
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12524.s1
4.4
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12541.s1
8.3
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12574.s1
11.3
F
Control (matched sibling)
NA
NA
162395328
162424687
29360
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12597.s1
5.3
F
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12631.s1
18.8
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12637.s1
5
M
Control (matched sibling)
NA
NA
163943744
163947429
3686
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12650.s1
4.7
F
Control (matched sibling)
NA
NA
166072214
166227968
155755
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12681.s1
12.8
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12723.s1
8.7
F
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12786.s1
4.9
M
Control (matched sibling)
NA
NA
165547401
165557987
10587
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12794.s1
6.3
M
Control (matched sibling)
NA
NA
164976466
165078852
102387
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12796.s1
6.8
F
Control (matched sibling)
NA
NA
160300736
160320116
19381
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
165324003
165380320
56318
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12888.s1
10.5
F
Control (matched sibling)
NA
NA
165547401
165571636
24236
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12997.s1
5.7
F
Control (matched sibling)
NA
NA
162312000
162854084
542085
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13035.s1
12.8
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
164452363
164605395
153033
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13153.s1
11.8
M
Control (matched sibling)
NA
NA
162496088
162511796
15709
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13153.s1
11.8
M
Control (matched sibling)
NA
NA
165800316
166153433
353118
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13171.s1
11.3
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13222.s1
13.5
F
Control (matched sibling)
NA
NA
165324003
165359625
35623
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
163011375
163176035
164661
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
gai_11_ASD_replication_cases-AU057503
Inherited
0 genes
gai_11_ASD_replication_cases-AU069303
Inherited
0 genes
gai_11_ASD_replication_cases-AU069304
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case535-3
Unknown
Unknown
Unknown
girirajan_13a_ASD_discovery_cases-13722.p1
Unknown
Simplex
Unknown
EEF1GP4,PSMC1P7,RPL23AP42,LINC02067,PPM1L,B3GALNT1,NMD3,SPTSSB
girirajan_13b_ASD_discovery_cases-25505102977
Unknown
Unknown
Unknown
RPS6P4,LINC01192
girirajan_13b_ASD_discovery_cases-40208110630
Unknown
Unknown
Unknown
RPS6P4
girirajan_13b_ASD_discovery_cases-59704102165
Unknown
Unknown
Unknown
RPS6P4,LINC01192
girirajan_13b_ASD_discovery_cases-60104102183
Unknown
Unknown
Unknown
RPS6P4,LINC01192
girirajan_13b_ASD_discovery_cases-63205104572
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003789
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EEF1GP4,PSMC1P7,RPL23AP42,TOMM22P6,LINC02067,OTOL1,B3GALNT1,NMD3,SPTSSB
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004728
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BRD7P2,C3orf80,MIR15B,MIR16-2,B3GAT3P1,RNU7-136P,SCARNA7,KRT8P12,RPL6P8,TRIM59,ARL14,IL12A-AS1,IFT80,KPNA4,PPM1L,SMC4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005158
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01326,RN7SKP298,PSAT1P4,CBX1P5
levy_11_ASD_discovery_cases-11450.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
li_18_ASD_discovery_cases-case6101
Unknown
Simplex
Unknown
maini_18_ASD/DD/ID_discovery_cases-case_unknown151
Maternal
Unknown
Unknown
RPS6P4,LINC01192
maini_18_ASD/DD/ID_discovery_cases-case_unknown152
Maternal
Unknown
Unknown
RPS6P4,LINC01192
morrow_08_ASD_discovery_cases-case7301
Paternal
NA
NA
3' end of PPM1L
nord_11_ASD_discovery_cases-204-1
Maternal
0 genes
nord_11_ASD_discovery_cases-207-1
Paternal
0 genes
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient2
Paternal
Multi-generational
Unknown
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
Maternal
Multi-generational
Unknown
pinto_10_ASD_discovery_cases-case1213_3
Illumina550
maternal
NA
NA
0 genes
pinto_10_ASD_discovery_cases-case1258_4
Illumina550;Affy5.0
maternal
NA
NA
0 genes
pinto_10_ASD_discovery_cases-case13046_553
qPCR
De novo
N/A
NA
0 genes
pinto_10_ASD_discovery_cases-case13108_1253
qPCR
De novo
NA
NA
0 genes
pinto_10_ASD_discovery_cases-case5120_3
Agilent1M
paternal
NA
NA
0 genes
pinto_10_ASD_discovery_cases-case5427_3
Agilent1M
paternal
NA
NA
0 genes
pinto_10_ASD_discovery_cases-case5430_4
Agilent1M
maternal
NA
NA
0 genes
prasad_12_ASD_discovery_cases-case115533
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case61028L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case69002
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1071-0
Not tested by qPCR
Unknown
Unknown
Unknown
RPS6P4,LINC01192
sanders_11_ASD_discovery_cases-11001.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11011.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC01322
sanders_11_ASD_discovery_cases-11028.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11088.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RN7SKP298,PSAT1P4
sanders_11_ASD_discovery_cases-11088.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11088.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11107.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11110.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11245.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PPM1L
sanders_11_ASD_discovery_cases-11250.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11254.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11277.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11331.p1
Paternal
Simplex (trio)
NA
LINC01322
sanders_11_ASD_discovery_cases-11345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11387.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11394.p1
Maternal
Simplex (trio)
NA
LINC01322
sanders_11_ASD_discovery_cases-11396.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11410.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS6P4,LINC01192
sanders_11_ASD_discovery_cases-11421.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11450.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11538.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11549.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11554.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11561.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11575.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11600.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11616.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11679.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11698.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11709.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11845.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11846.p1
Maternal
Simplex (trio)
NA
LINC01322
sanders_11_ASD_discovery_cases-11869.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11888.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01326
sanders_11_ASD_discovery_cases-11888.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11894.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11901.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11914.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11916.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11935.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-11996.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12057.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12072.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12099.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12120.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12189.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12192.p1
Paternal
Simplex (trio)
NA
LINC01322
sanders_11_ASD_discovery_cases-12212.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12221.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12224.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12243.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12250.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12252.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12274.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12279.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12297.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12331.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12355.p1
Maternal
Simplex (trio)
NA
LINC01322
sanders_11_ASD_discovery_cases-12360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01192
sanders_11_ASD_discovery_cases-12370.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12385.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12396.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12420.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12423.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12524.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12539.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12541.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12614.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12621.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12626.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12637.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12638.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12650.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MTND4P17,MTND4LP10,MTND3P7,MTCO3P38,MCUR1P2
sanders_11_ASD_discovery_cases-12691.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12695.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12703.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12723.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12796.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IFT80
sanders_11_ASD_discovery_cases-12828.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12838.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12858.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12888.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-12941.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12997.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TOMM22P6
sanders_11_ASD_discovery_cases-12998.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13015.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-13035.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-13048.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13070.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-13082.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13097.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-13169.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-13222.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sanders_11_ASD_discovery_cases-13322.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01322
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Maternal
Simplex (ASD), Multiplex (language delay)
Not segregated
0 genes
soueid_16_ASD_discovery_cases-caseLAS15
Paternal
Simplex
LINC01322
soueid_16_ASD_discovery_cases-caseSAI31
Maternal
Simplex
TOMM22P6,RPS6P4,LINC01192
stamouli_18_ASD/NDD_discovery_cases-family53_Twin_2
Unknown
Simplex
Not segregated (CNV also present in unaffected twin)
RPS6P4,LINC01192
tabet_12_ASD_discovery_cases-patient2
Maternal
Multiplex
Unknown
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
vaags_11_ASD_discovery_cases-probandF2-003
Unknown
Multiplex
Unknown
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
yin_16_ASD_discovery_cases-case153
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case154
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case155
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case156
Unknown
Unknown
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_controls-57305104494
Unknown
RPS6P4,LINC01192
kanduri_15_ASD_discovery_controls-control_split1516
Unknown
Intergenic CNV: nearest genes, BCHE(dist=967594),ZBBX(dist=426096)
kanduri_15_ASD_discovery_controls-control_split1593
Unknown
Intergenic CNV: nearest genes, CT64(dist=637268),SI(dist=1032401)
kanduri_15_ASD_discovery_controls-control_split164
Unknown
Intergenic CNV: nearest genes, OTOL1(dist=908961),CT64(dist=739955)
kanduri_15_ASD_discovery_controls-control_split2103
Unknown
Intergenic CNV: nearest genes, OTOL1(dist=908961),CT64(dist=752556)
krumm_15_ASD_discovery_controls-control12794.s1
Illumina 1MDuo
Maternal
SI
krumm_15_ASD_discovery_controls-control13583.s1
1M-Duov3
Maternal
SI
sanders_11_ASD_discovery_controls-11028.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11033.s1
Unknown
Simplex (quad)
NA
SI
sanders_11_ASD_discovery_controls-11051.s1
Maternal
Simplex (quad)
NA
RPS6P4,LINC01192
sanders_11_ASD_discovery_controls-11094.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11101.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11101.s1
Unknown
Simplex (quad)
NA
SERPINI2,WDR49
sanders_11_ASD_discovery_controls-11106.s1
Paternal
Simplex (quad)
NA
CBX1P5
sanders_11_ASD_discovery_controls-11107.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11110.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11148.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11201.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11245.s1
Maternal
Simplex (quad)
NA
PPM1L
sanders_11_ASD_discovery_controls-11250.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11289.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11345.s1
Unknown
Simplex (quad)
NA
SI
sanders_11_ASD_discovery_controls-11367.s1
Unknown
Simplex (quad)
NA
TOMM22P6
sanders_11_ASD_discovery_controls-11396.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11424.s1
Paternal
Simplex (quad)
NA
CBX1P5
sanders_11_ASD_discovery_controls-11439.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11450.s1
Paternal
Simplex (quad)
NA
CBX1P5
sanders_11_ASD_discovery_controls-11475.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11504.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11536.s1
Unknown
Simplex (quad)
NA
SI
sanders_11_ASD_discovery_controls-11550.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11561.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11569.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11571.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11600.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11654.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11657.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11673.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11718.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11869.s1
Paternal
Simplex (quad)
NA
CBX1P5
sanders_11_ASD_discovery_controls-11883.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11894.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11901.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11916.s1
Paternal
Simplex (quad)
NA
LINC01324
sanders_11_ASD_discovery_controls-11922.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11935.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-11940.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12056.s1
Unknown
Simplex (quad)
NA
BCHE
sanders_11_ASD_discovery_controls-12057.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12057.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12091.s1
Maternal
Simplex (quad)
NA
CBX1P5
sanders_11_ASD_discovery_controls-12099.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12120.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12161.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12189.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12212.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12229.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12243.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12323.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12329.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12347.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12396.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12420.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12494.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12524.s1
Both parents
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12541.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12555.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12574.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12597.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12621.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12631.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12637.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12650.s1
Paternal
Simplex (quad)
NA
MTND4P17,MTND4LP10,MTND3P7,MTCO3P38,MCUR1P2
sanders_11_ASD_discovery_controls-12681.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12691.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12723.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12786.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12794.s1
Maternal
Simplex (quad)
NA
SI
sanders_11_ASD_discovery_controls-12796.s1
Maternal
Simplex (quad)
NA
IFT80
sanders_11_ASD_discovery_controls-12838.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12858.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12888.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-12997.s1
Maternal
Simplex (quad)
NA
TOMM22P6
sanders_11_ASD_discovery_controls-13035.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-13048.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13051.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-13070.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-13153.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13153.s1
Paternal
Simplex (quad)
NA
BCHE
sanders_11_ASD_discovery_controls-13169.s1
Paternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-13171.s1
Maternal
Simplex (quad)
NA
LINC01322
sanders_11_ASD_discovery_controls-13222.s1
Paternal
Simplex (quad)
NA
LINC01322
stamouli_18_ASD/NDD_discovery_controls-family53_Twin_1
Unknown
Simplex
RPS6P4,LINC01192
No Animal Model Data Available