15q26.1CNV Type: Deletion-Duplication
Largest CNV size: 235258 bp
Statistics Box:
Number of Reports: 29
Number of Reports: 29
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Microdeletion of chromosome 15q26.1 in a child with intractable generalized epilepsy.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, a...
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems.
Deletion
CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
4390
1
0
1
capelli_12_DD/EP_discovery_cases
Third child of non-consanguineous parents referred for genetic evaluation at age of 6 years and presenting with global developmental delay and epilepsy
1
Global developmental delay, epilepsy, autistic behavior, and facial dysmorphisms.
6 yrs.
Female
511000
1
0
1
capelli_12_DD_discovery_cases
Third child of non-consanguineous parents referred for genetic evaluation and presenting with features suggestive of Angelman syndrome
1
Global developmental delay, epilepsy, autistic behavior, & facial dysmorphism
6 yrs.
Female
511000
1
0
1
chenier_14_DD/ID/EP/ASD_discovery_cases
CNV data from six genetic diagnostic laboratories (the Hospital for Sick Children, Toronto; Alberta Children's Hospital, Calgary; King's College London, London; Centre Hospitalier Universitaire Sainte-Justine, Montreal; Credit Valley Hospital, Mississauga; and Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke).
42313
Developmental delay/intellectual disability, multiple congenital anomalies, and/or ASD
N/A
N/A
237000
4
0
4
dhamija_11_EP/PDD_discovery_cases
9-year-old girl with history of pervasive developmental disorder and developmental delay referred to Dept. of Pediatric Neurology, Mayo Clinic (Rochester, MN) for diagnosis and treatment of intractable epilepsy since age of 3.5 years
1
Pervasive developmental disorder (PDD), intractible primary generalized epilepsy (EP), growth delay, and mild dysmorphic features.
9 yrs.
Female
731200
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
241607
9
3
12
feliciano_19_ASD_discovery_cases
ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
465
All cases diagnosed with ASD
Range of age at enrollment, 1.544.6 years
80.86% Male
101656
0
1
1
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
27278
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
453296
0
1
1
kamien_13_ASD/EP_discovery_cases
Only child of non-consanguineous parents from a pedigree with multiple affected individuals
1
ASD and epilepsy. Diagnosis of ASD based on meeting ADOS 2, ADI-R, and DSM-V criteria. Developmental assessment performed using Wechsler Preschool and Primary Scale of Intelligence (3rd edition; Australian Standardized Edition).
6 yrs. 9 mos.
Male
520000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1268881
1
2
3
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
31880
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
101655
N/A
N/A
6
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
21504
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
61323
0
1
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
264000
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
71510
0
1
1
pfundt_16_NDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1215
Neurodevelopmental disorders
N/A
N/A
218984
2
0
2
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
82998
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
92265
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
100717
0
1
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
250000
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
235258
15
2
17
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
2789852
1
0
1
thomas_15_DD/ID/EP_discovery_cases
Cases with CHD2 variants recruited to the Epilepsy Genetics Research Program at the University of Melbourne (n=9) or assessed by the EuroEPINOMICS-RES Consortium (n=1)
10
All ten cases presented with intellectual disability and epilepsy, while nine presented with developmental delay.
Mean age of 17.9 yrs. (range 636 yrs.)
60.0% Male
2450345
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
160735
0
1
1
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
883758
1
0
1
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
42594
0
1
1
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
482000
0
1
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
56220
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chenier_14_DD/ID/EP/ASD_discovery_controls
High-resolution CNV data from among 13 control cohorts (Ontario ARCTIC, POPGEN, Ottawa Heart Institute, HapMap phase 3, the Starr County Diabetes study, the Geneva NHS/HPFS Diabetes study, OPGP, WTCCC, SAGE consortium, Health ABC, KORA, COGEND, and Itsara et al., 2009)
26826
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
160735
7
5
12
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
203391
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
14814
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
14814
3
0
3
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
21504
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
170126
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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.
102320
3
0
3
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)
100717
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.
190903
13
1
14
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
160735
N/A
N/A
N/A
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
0
0
0
0
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
56220
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
capelli_12_DD/EP_discovery_cases
Brazil
aCGH
BlueGnome whole-genome oligoarray
ADM-2
Agilent Feature Extraction, Genomic Workbench
None
capelli_12_DD_discovery_cases
Brazilian
aCGH
BlueGnome whole-genome oligoarray
ADM-2
Agilent Feature Extraction, Genomic Workbench
None
chenier_14_DD/ID/EP/ASD_discovery_cases
N/A
aCGH
Oxford Gene Technology ISCA 180 K, Agilent 60K, NimbleGen CGX-12 135K array, Signature Genomics v1.0, CytoChip ISCA 60K, BlueGnome v2.0, CytoSure ISCA 180 K, Oxford Gene Technology v2.0
MLPA, aCGH, or FISH
dhamija_11_EP/PDD_discovery_cases
Ashkenazi Jewish
aCGH
Agilent 44K
FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
feliciano_19_ASD_discovery_cases
N/A
WES
Illumina HumanCoreExome 550K
CoNIFER, XHMM
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kamien_13_ASD/EP_discovery_cases
Australia
aCGH
ISCA 60K genome-wide array
BlueFuse-Multi
FISH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
pfundt_16_NDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
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
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
thomas_15_DD/ID/EP_discovery_cases
Australia
aCGH
Agilent Human Genome CGH 2x400K, NimbleGen Human CGH 3x720K Exon-Focused Array
NA
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
qPCR
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
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
chenier_14_DD/ID/EP/ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Affymetrix 500k, Affymetrix 6.0, Illumina 1M, Illumina 1M-Duo, Illumina Omin 2.5M
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
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
brandler_18_ASD_discovery_cases-caseSSC07827
N/A
M
ASD
Case from SSC_phase1 cohort
92941008
92945398
4391
GRCh38
Deletion
Yes
capelli_12_DD/EP_discovery_cases-case1
6 yrs.
F
Developmental delay and epilepsy
Birth/neonatal history: uneventful pregnancy. Language and communication evaluation: severe speech impairment with minimal use of words (around 10-20). Motor and musculoskeletal evaluation: gait ataxia accompanied by uplifted arms; slight hypotonia with normal muscle strength; hyperactive deep tendon reflexes without the Babinski sign. Behavioral/psychiatric evaluation: autistic behaviors (hand flapping), additional behavioral disturbances included high excitability and short attention span. Epilepsy/seizures: seizures started at age of 24 months and were partially controlled by valproic acid. EEG: generalized spike-waves associated with focal discharges; focal epileptiform waves mainly localized to rolandic-parietal region, especially in left hemisphere (differed from three EEG patterns suggestive of Angelman syndrome). Brain imaging: no severe abnormalities observed on brain MRI. Dysmorphic features: prognathia, wide mouth, short and widely spaced teeth, non-paralytic strabismus, facial gestalt suggestive of Angelman syndrome; skin, hair, and eyes light in color. Growth parameters: weight 50th %ile, length 75th %ile, head circumference 10th %ile. Family history: third child of non-consanguineous parents.
Global developmental delay
92869630
93380627
510998
GRCh38
Deletion
No
capelli_12_DD_discovery_cases-proband
6 yrs.
F
Developmental delay + epilepsy
Birth/neonatal history: uneventful pregnancy. Developmental milestones: severe speech impairment with minimal use of words (10-20). Behavioral characteristics: autistic behavior; easily excitable personality with uplifted hand flapping. Gait ataxia accompanied by uplifted arms; slight hypotonia with normal muscle strength; hyperactive deep tendon reflexes without the Babinski sign. Epilepsy/seizures: seizures started at 24 months & were partially controlled with valproic acid. Brain MRI: no severe abnormalities. EEG: generalized spike-waves associated with focal discharges; focal epileptiform waves were mainly localized to rolandic-parietal region, especially in left hemisphere, and differed from EEG patterns suggestive of Angelman syndrome (AS). Dysmorphic features: hypopigmented skin, light hair & eye color, prognathia, wide mouth, short & widely spaced teeth, non-paralytic strabismus; facial gestalt suggestive of Angelman syndrome (AS). Growth parameters: height, 75th %ile; weight, 50th %ile; head circumference, 10th %ile.
Severe developmental delay & mental deficiency
92869630
93380627
510998
GRCh38
Deletion
No
chenier_14_DD/ID/EP/ASD_discovery_cases-case1
11 yrs.
F
Epilepsy and developmental delay
Birth/neonatal history: born by C-section at 38 weeks gestation; birth weight of 2977 g (25th %ile). Developmental milestones: motor and speech delay; sat upright at age of 1 year, walked at 22 months of age, first words at age of 3 years. Motor and musculoskeletal evaluation: mild hypotonia; 5th finger brachydactyly, syndactyly of toes 2 and 3, mild thoracic scoliosis, proximal interphalangeal joint fusion of thumbs. Behavioral/psychiatric evaluation: short attention span, aggressive behavior, limited social skills. Epilepsy/seizures: absence seizures with eyelid myoclonia (Jeavons syndrome; onset at 6 years of age); medications included lamotrigine and ethosuximide. Brain imaging: normal brain MRI. Other features: mild peripheral hearing loss (higher frequencies), duplex kidney. Dysmorphic features: square-shaped face, high forehead, prominent columella, short philtrum. Family history: born to healthy non-consanguineous Caucasian parents.
Learning disability, short-term memory problems
92780817
92971870
191054
GRCh38
Deletion
Yes
chenier_14_DD/ID/EP/ASD_discovery_cases-case2
9 yrs.
F
Epilepsy and ADHD
Birth/neonatal history: born at term (41 weeks gestation) after uneventful pregnancy; birth weight of 3610 g (50th %ile); mild axial hypotonia and feeding problems as an infant. Developmental milestones: walked at 15 months of age. Language and communication evaluation: communication disorder (receptive and expressive language difficulties). Motor and musculoskeletal evaluation: mild hypotonia. Behavioral/psychiatric evaluation: diagnosis of ADHD (treated with dextroamphetamine and amphetamine), limited social skills with any other ASD-associated features. Epilepsy/seizures: absence seizures (onset at 3 years of age), treated with levetiracetam and valproic acid. EEG: generalized epileptogenic dysfunction and photosensitivity. Brain imaging: not performed. Other features: reduced body fat mass. Dysmorphic features: triangular face, prominent forehead, full lips, widely spaced central maxillary incisors, micrognathia. Family history: born to non-consanguineous parents.
Learning disability, short-term memory problems, visual perception disability
92743103
92953161
210059
GRCh38
Deletion
Yes
chenier_14_DD/ID/EP/ASD_discovery_cases-case3
6 yrs.
F
Intellectual disability and behavioral problems
Birth/neonatal history: born at term by C-section after unremarkable pregnancy; birth weight of 2920 g (25th %ile); feeding difficulties and mild hypotonia as an infant. Developmental milestones: global developmental delay; sat upright at 9 months of age, walked at 26 months. Language and communication evaluation: normal speech, delayed language comprehension skills. Motor and musculoskeletal evaluation: mild delays in fine motor skills; normal tone at age of 6 years; unable to climb stairs with alternating feet and had difficulty pedaling a tricycle. Behavioral/psychiatric evaluation: aggressive, impulsive, and repetitive behaviors (did not meet criteria for ASD). Epilepsy/seizures: none. EEG: normal. Brain imaging: normal brain MRI. Other features: ongoing issues with chewing and swallowing food properly in early childhood. Dysmorphic features: brachycephaly, broad forehead, short nose with upturned tip, strabismus. Growth parameters: normal. Family history: born to healthy non-consanguineous parents.
Intellectual disability; below 1st %ile on Wechsler Preschool and Primary Scale of Intelligence-Third Edition full-scale IQ test at age of 4 years.
92912938
92991108
78171
GRCh38
Deletion
Yes
chenier_14_DD/ID/EP/ASD_discovery_cases-case4
16 yrs.
F
ASD, ID, and epilepsy
Developmental milestones: global developmental delay with more significant speech delay. Motor and musculoskeletal evaluation: mild thoracic scoliosis. Behavioral/psychiatric evaluation: ASD, aggressive behavior, Tourette syndrome. Epilepsy/seizures: complex partial and generalized seizures noted between 3 and 24 months of age. Brain imaging: normal brain MRI. Dysmorphic features: none reported. Growth parameters: normal.
Intellectual disability; IQ range of 35-49.
93020334
93257665
237332
GRCh38
Deletion
Yes
dhamija_11_EP/PDD_discovery_cases-case1
9 yrs.
F
PDD and Epilepsy
Birth/neonatal history: pregnancy complicated by preterm delivery at 36 weeks gestation by C-section for decreased fetal heart rate; pregnancy also notable for concerns of small for gestational age detected in last trimester; birth weight 1.96 kg (25th %ile). Developmental milestones: did not walk until 2 years of age; delayed communication skills with echolalia, delayed social skills, and unusual preoccupation with mirrors and lights manifested at 2.5 years of age. Formal neuropsychological testing at 6, 7, and 8 years of age revealed impairment across domains of langauge, visual spacial, visual motor, motor, behavior, and language. Language and communication evaluation: speech delay; echolalia. Motor and musculoskeletal evaluation: results of motor examination were nonfocal. Behavioral/psychiatric evaluation: delayed social skills, preoccupation with mirrors and light, behavioral impairment. Epilepsy/seizures: onset of seizures at 3.5 years of age; initial seizures were partial complex; development of intractable generalized seizures over the next few years; most prominent seizure types were absence seizures; also experienced tonic, myoclonic, and generalized tonic-clonic seizures in the past; seizures refractory to antiepileptic therapy. EEG: generalized atypical spike and wave discharges and photoparoxysmal response. Brain imaging: MRI and MRS normal. Dysmorphic features: mildly dysmorphic facial features with widely set eyes, deep pits on helix of ears bilaterally, crowed teeth with prominent incisors. Growth parameters: short stature; microcephaly [head circumference of 48.5 cm (<3rd %ile)]. Family history: significant for Ashkenazi Jewish ancestry, although prenatal screening of mother revealed nothing abnormal.
Mild generalized cognitive delay
92289175
93020394
731220
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14070_1230
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
92855773
92938770
82998
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14144_2420
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90295161
90455896
160736
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14314_4310
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93602299
93705236
102938
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16029_1571001001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93607492
93699756
92265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20066_1318001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
92726990
92837684
110695
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3381_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93602299
93705236
102938
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3609_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
90295161
90455896
160736
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4231_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88639365
88680122
40758
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8117_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93607492
93699756
92265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8423_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
89528503
89570701
42199
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8534_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
93607492
93699756
92265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8695_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
92045651
92287258
241608
GRCh38
Deletion
No
feliciano_19_ASD_discovery_cases-caseSP0020473
N/A
M
ASD
Family history: both parents are negative for ASD and have no reported mental health diagnoses.
90354661
90456316
101656
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case548-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
90602377
90629655
27279
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case19D0883
17 mos.
M
Developmental delay
92122497
92575792
453296
GRCh38
Duplication
No
kamien_13_ASD/EP_discovery_cases-case1
6 yrs. 9 mos.
M
ASD and epilepsy
Diagnosis of ASD made at age of 6 years 9 months based on meeting ADOS 2, ADI-R, and DSM-V criteria. ADOS 2 scores: social affect total score of 20; restricted and repetitve behaviors total score of 5; overall total score of 25 (cut-off score of 9). ADI-R scores: qualitative abnormalities in reciprocal social interaction score of 23 (cut-off score of 10); qualitative abnormalities in communication score of 18 (cut-off score of 8); restricted, repetitive and stereotyped patterns of behavior score of 7 (cut-off score of 3); abnormality of development evident at or before 36 months score of 3 (cut-off score of 1). Birth/neonatal history: unremarkable pregnancy history, born at 38 weeks gestation via C-section for cephalopelvic disproportion, no neonatal complications. Developmental milestones: milestones such as walking and speech attained at appropriate times; mother reports patient was never interested in people and describes behavior as unusual from a young age, including pica. Behavioral/psychiatric evaluation: hyperactivity, impulsivity, poor attention, frequent tantrums, occassional aggression, fixation on sharp objects; occassionally threatens self-harm or violence to others; over-familiar with strangers and can exhibit inappropriate hugging or kissing; poor social reciprocity; exhibits repetitive play and repetitive speech and dislikes changes to routine; constant crying exhibited since birth; high pain threshold; treatment with topiramate resulted in almost immediate improvement in behavior and de-escalation in aggression and violence. Sleep disturbances: poor sleep requiring melatonin treatment. Epilepsy/seizures: epilepsy started at age of 6 months; presumed absence seizures, drop seizures, and generalized tonic-clonic seizures (occurring every few days to few months); three febrile convulsions between 16-24 months of age. EEG: normal or showing isolated theta waves in right frontal region. Brain imaging: brain MRI within normal limits at age of 5 years. Dysmorphic features: mild eczema. Growth parameters: head circumference of 51.2 cm (50th %ile), height 75th %ile, weight 90th %ile. Family history: first child of non-consanguineous parents; father with diagnosis of antisocial personality disorder (could not be confirmed); strong family history of depression on paternal side of family; paternal half-brother with three febrile convulsions (information regarding intellectual functioning or behavior N/A); intellectually normal mother suffers from migraines; one maternal uncle with ADHD and hypospadias, another maternal uncle with Asperger-like traits (but no formal diagnosis).
Verbal IQ estimated to be in average range (27th %ile), performance IQ estimated to be in low-average range of abilities (14th %ile); complete developmental assessment [using Wechsler Preschool and Primary Scale of Intelligence (3rd edition; Australian standardized edition)] performed at age of 5 years was not possible due to patient's frustration and aggression.
92173728
92695591
521864
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004610
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
92170113
93438995
1268883
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005245
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
92900794
93012446
111653
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005283
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
92780719
93487233
706515
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13543.p1
N/A
M
ASD
ASD proband from SSC quad family 13543. SRS score of 82.
Full-scale IQ (FSIQ) score of 42.
90944891
90976771
31881
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11463.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
89292687
89295094
2408
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11556.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
89247647
89264607
16961
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12032.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
89790459
89797722
7264
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12842.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
90354660
90456315
101656
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13314.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type:
92941821
92944515
2695
GRCh38
N/A
Yes
krumm_15_ASD_discovery_cases-case13578.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
90354660
90390873
36214
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case20
N/A
M
ASD and psychosis
Male, above average IQ, psychosis onset early 20s after stressful life event, diagnosis of bipolar II, no known family history. CNV not reported in DGV.
Above average IQ
90005966
90027470
21505
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-12117.p1
NA
M
ASD
NA
NA
90496811
90558133
61323
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown44
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)
92997770
93262301
264532
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-MM0256-004
NA
M
ASD
NA
NA
89578165
89649674
71510
GRCh38
Duplication
Yes
pfundt_16_NDD_discovery_cases-case40
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: KIF7 deletion
89483066
89702050
218985
GRCh38
Deletion
No
pfundt_16_NDD_discovery_cases-case99
N/A
N/A
NDD
Disease cohort: neurodevelopmental disorder. Description: BLM deletion
90638445
90769587
131143
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case14070_1230
NA
M
Autism
No language delay, no epilepsy; micrognatia, protruding ears; brain MRI: altered angular gyrus (normal variant, unknown pathological significance)
Mild MR
92855773
92938770
82998
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case8534_201
N/A
M
ASD
Autism on ADI, ASD on ADOS; physical exam at 23 y: overweight (+3.6 SD, BMI 30.4), normal height, head circumference +2 SD, Duane syndrome (congenital disorder of eye movement), no epilepsy. Family history: mother with congenital hearing loss, peculiar gait, shyness in childhood, rigidity, and eating disorder; father unaffected; 1 healthy brother and 1 healthy sister (not tested).
VIQ 136, PIQ 105
93607492
93699756
92265
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case43738
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
87901094
88001810
100717
Unknown
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-ASDcase4
9 yrs.
M
ASD
Dysmorphism
89112540
89362689
250150
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
93591861
93632721
40861
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
90940162
90946689
6528
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
93109005
93344263
235259
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11479.p1
6
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 137; verbal IQ, 119
93607492
93699756
92265
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
89241450
89260880
19431
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11583.p1
13
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
92701869
92724106
22238
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11824.p1
8.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 72
93593501
93620471
26971
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11868.p1
7.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
93593501
93620471
26971
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11947.p1
13.1
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 33; verbal IQ, 28
90920331
90925427
5097
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
89550172
89570701
20530
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12032.p1
10.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 71; verbal IQ, 84
89790334
89793142
2809
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12099.p1
8
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 55; verbal IQ, 63
88725816
88734096
8281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12117.p1
9.6
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
90500277
90554732
54456
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
93315802
93322905
7104
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12329.p1
8.1
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 82
88725816
88734096
8281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
91441263
91445901
4639
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13095.p1
9.8
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 32; verbal IQ, 25
88725816
88734096
8281
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT81
NA
NA
ASD and developmental delay
Case met DSM-5 diagnostic criteria for ASD. Case also presented with psychomotor delay and microcephaly.
90176707
92966558
2789852
GRCh38
Deletion
No
thomas_15_DD/ID/EP_discovery_cases-case9
36 yrs.
F
Developmental delay, intellectual disability, and epilepsy/seizures
Developmental milestones: developmental delay, speech delay (poor verbal comprehension at 2 years), developmental regression. Motor and musculoskeletal evaluation: mildly crouched gait. Behavioral/psychiatric evaluation: autistic traits, aggressive behavior. Epilepsy/seizures: generalized tonic-clonic seizures with onset at 34 months, myoclonic seizures (self-induced with television or light through trees) with onset at 4 years, absence seizures with eyelid myoclonia with onset at 4 years. EEG: abnormal (generalized epileptiform discharges at 5 years).
Mild intellectual disability
90484300
92934644
2450345
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-14144-2420
N/A
M
ASD
N/A
N/A
90295161
90455896
160736
GRCh38
Duplication
No
wang_18_TS_discovery_cases-caseM_RU_30.p1
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 2 cohort; no additional clinical information available
89301325
90185081
883757
GRCh38
Deletion
Yes
woodbury-smith_14_ASD_discovery_cases-case13
N/A
M
ASD
Family history: broad autism phenotype (BAP)-defined father.
44624341
44666934
42594
GRCh38
Duplication
No
xu_16_ASD/DD/ID_discovery_cases-case9
N/A
N/A
ASD
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis)
92141848
92623467
481620
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case484
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
89248285
89304504
56220
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
engchuan_15_ASD_discovery_controls-control110036020196_
N/A
N/A
Control
No previous psychiatric history
93593501
93623530
30030
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036022127_
N/A
N/A
Control
No previous psychiatric history
93408897
93458403
49507
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB141230_1007874883
N/A
N/A
Control
No previous psychiatric history
90295161
90455896
160736
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB287525_1007875241
N/A
N/A
Control
No previous psychiatric history
93607492
93699756
92265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
N/A
N/A
Control
No previous psychiatric history
90282201
90409000
126800
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
N/A
N/A
Control
No previous psychiatric history
90295161
90455896
160736
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB467732_1007842340
N/A
N/A
Control
No previous psychiatric history
92685403
92727308
41906
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
N/A
N/A
Control
No previous psychiatric history
90307530
90455896
148367
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
N/A
N/A
Control
No previous psychiatric history
93607492
93699756
92265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900346_900346
N/A
N/A
Control
No previous psychiatric history
93607492
93699756
92265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900579_900579
N/A
N/A
Control
No previous psychiatric history
93607492
93699756
92265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900958_900958
N/A
N/A
Control
No previous psychiatric history
90455896
90571144
115249
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1183
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
93726657
93930047
203391
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control12651.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12651. SRS score of 38.
90942911
90957725
14815
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11463.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
89292687
89295094
2408
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12651.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
90942911
90957725
14815
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13682.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
90223558
90232327
8770
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-12240.s1
NA
F
Control
NA
NA
90105323
90275448
170126
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C26602
Control
91947290
92049609
102320
Unknown
Deletion
nord_11_ASD_discovery_controls-04C27853
Control
91937939
91966473
28535
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28495
Control
88038133
88081965
43833
Unknown
Deletion
sanders_11_ASD_discovery_controls-11094.s1
12.2
M
Control (matched sibling)
NA
NA
93458074
93471328
13255
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11141.s1
5.2
F
Control (matched sibling)
NA
NA
93580568
93636131
55564
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
93315802
93322905
7104
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
93593501
93620471
26971
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
89241450
89260880
19431
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
93593501
93624460
30960
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11922.s1
13.4
M
Control (matched sibling)
NA
NA
88725816
88734096
8281
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
89550172
89564000
13829
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
90104624
90295527
190904
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12329.s1
6.3
M
Control (matched sibling)
NA
NA
88725816
88734096
8281
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12651.s1
15.8
M
Control (matched sibling)
NA
NA
90946475
90955051
8577
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12655.s1
18.3
M
Control (matched sibling)
NA
NA
93215984
93307995
92012
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12676.s1
9.2
M
Control (matched sibling)
NA
NA
93593501
93620471
26971
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12921.s1
6.5
F
Control (matched sibling)
NA
NA
93593501
93620471
26971
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC07827
PCR or SNP data validation (SNP VCF)
De novo
CHD2
capelli_12_DD/EP_discovery_cases-case1
De novo
Simplex
Likely segregated
MIR3175,LINC01578,CHD2,RGMA
capelli_12_DD_discovery_cases-proband
De novo
MIR3175,LINC01578,CHD2,RGMA
Normal methylation pattern in Prader-Willi-Angelman critical region (PWACR)
chenier_14_DD/ID/EP/ASD_discovery_cases-case1
MLPA, aCGH, or FISH
De novo
ASB9P1,MIR3175,LINC01578,FAM174B,CHD2
chenier_14_DD/ID/EP/ASD_discovery_cases-case2
MLPA, aCGH, or FISH
De novo
ASB9P1,MIR3175,LINC01578,FAM174B,CHD2
chenier_14_DD/ID/EP/ASD_discovery_cases-case3
MLPA, aCGH, or FISH
De novo
CHD2
chenier_14_DD/ID/EP/ASD_discovery_cases-case4
MLPA, aCGH, or FISH
De novo
CHD2,RGMA
dhamija_11_EP/PDD_discovery_cases-case1
FISH
De novo
Possibly simplex
Possibly segregated
HMGN1P38,ASB9P1,MIR3175,ENO1P2,C15orf32,LINC00930,H2AFVP1,LINC01578,ST8SIA2,FAM174B,CHD2
engchuan_15_ASD_discovery_cases-case14070_1230
De novo
MIR3175,LINC01578,CHD2
engchuan_15_ASD_discovery_cases-case14144_2420
Unknown
GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
engchuan_15_ASD_discovery_cases-case14314_4310
Unknown
engchuan_15_ASD_discovery_cases-case16029_1571001001
Unknown
engchuan_15_ASD_discovery_cases-case20066_1318001
Unknown
ASB9P1,H2AFVP1,FAM174B
engchuan_15_ASD_discovery_cases-case3381_3
Unknown
engchuan_15_ASD_discovery_cases-case3609_3
Unknown
GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
engchuan_15_ASD_discovery_cases-case4231_1
Unknown
ISG20
engchuan_15_ASD_discovery_cases-case8117_202
Unknown
engchuan_15_ASD_discovery_cases-case8423_201
Unknown
engchuan_15_ASD_discovery_cases-case8534_201
Unknown
engchuan_15_ASD_discovery_cases-case8695_201
Unknown
DUXAP6,NPM1P5,SLCO3A1
feliciano_19_ASD_discovery_cases-caseSP0020473
Paternal
Simplex
NDUFA3P4,ZNF774,IQGAP1
null
gazzellone_14_ASD_discovery_cases-case548-3
Unknown
Unknown
Unknown
CRTC3,CRTC3-AS1
han_22_ASD/DD/ID_discovery_cases-case19D0883
Unknown
SLCO3A1,C15orf32,DUXAP6,NPM1P5,LINC00930,ENO1P2,ST8SIA2
kamien_13_ASD/EP_discovery_cases-case1
FISH
Unknown (not maternal)
Multi-generational
Unknown
DUXAP6,NPM1P5,ENO1P2,C15orf32,LINC00930,ST8SIA2,FAM174B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004610
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DUXAP6,NPM1P5,HMGN1P38,ASB9P1,MIR3175,ENO1P2,C15orf32,LINC00930,H2AFVP1,LINC01578,SLCO3A1,ST8SIA2,FAM174B,CHD2,RGMA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005245
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR3175,CHD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005283
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ASB9P1,MIR3175,LINC01578,FAM174B,CHD2,RGMA
krumm_13_ASD_discovery_cases-case13543.p1
Maternal
Simplex
Segregated
RCCD1,UNC45A,PRC1,PRC1-AS1
krumm_15_ASD_discovery_cases-case11463.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
FANCI
krumm_15_ASD_discovery_cases-case11556.p1
Illumina 1M
Paternal
Simplex
Segregated
FANCI
krumm_15_ASD_discovery_cases-case12032.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ANPEP
krumm_15_ASD_discovery_cases-case12842.p1
1M-Duov3
Paternal
Simplex
Segregated
NDUFA3P4,ZNF774,IQGAP1
krumm_15_ASD_discovery_cases-case13314.p1
aCGH
De novo
Simplex
CHD2
krumm_15_ASD_discovery_cases-case13578.p1
1M-Duov3
Maternal
Simplex
Segregated
NDUFA3P4,ZNF774,IQGAP1
larson_17_ASD_discovery_cases-case20
Unknown
Simplex
Unknown
MIR3174,ZNF710
levy_11_ASD_discovery_cases-12117.p1
Maternal
Simplex
Segregated
IQGAP1,CRTC3
maini_18_ASD/DD/ID_discovery_cases-case_unknown44
Paternal
Unknown
Unknown
CHD2,RGMA
marshall_08_ASD_discovery_cases-MM0256-004
qPCR, qmPCR
Unknown
NA
NA
TICRR,KIF7
pfundt_16_NDD_discovery_cases-case40
RPL36AP43,RHCG,TICRR,PLIN1,PEX11A,WDR93,LINC00928,KIF7
pfundt_16_NDD_discovery_cases-case99
LINC01585,BLM,CRTC3,CRTC3-AS1
pinto_10_ASD_discovery_cases-case14070_1230
qPCR-Denovo
De novo
Multiplex
Not tested
MIR3175,LINC01578,CHD2
pinto_14_ASD_discovery_cases2-case8534_201
qPCR
Paternal
Simplex
Unknown (1 healthy brother and 1 healthy sister, not tested)
prasad_12_ASD_discovery_cases-case43738
Unknown
Unknown
Unknown
KIF7,C15orf42
roberts_13_ASD/DD/ID_discovery_cases-ASDcase4
BACs aCGH or FISH
Unknown (not paternal)
Unknown
Unknown
RNU7-195P,HMGB1P8,MIR6766,RLBP1,POLG,FANCI,MIR9-3HG,ABHD2
sanders_11_ASD_discovery_cases-11141.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11360.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UNC45A
sanders_11_ASD_discovery_cases-11394.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11479.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11556.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FANCI
sanders_11_ASD_discovery_cases-11583.p1
Maternal
Simplex (trio)
NA
HMGN1P38,H2AFVP1,FAM174B
sanders_11_ASD_discovery_cases-11824.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11868.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11947.p1
Unknown
Simplex (quad-proband matched)
Segregated
MAN2A2
sanders_11_ASD_discovery_cases-11999.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12032.p1
Maternal
Simplex (quad-proband matched)
Segregated
ANPEP
sanders_11_ASD_discovery_cases-12099.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12117.p1
Maternal
Simplex (quad-proband matched)
Not segregated
IQGAP1,CRTC3
sanders_11_ASD_discovery_cases-12266.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12329.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12403.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CRAT37
sanders_11_ASD_discovery_cases-13095.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sandoval_talamantes_23_ASD_discovery_cases-caseAUT81
Unknown
BLM,CHD2,FES,SLCO3A1,VPS33B,NGRN,UNC45A,CRTC3,RCCD1,C15orf32,ZNF774,HDDC3,GDPGP1,FAM174B,DUXAP6,HMGN1P38,H2AZ2P1,ASB9P1,GOLGA2P8,RPS12P26,MAN2A2,FURIN,NPM1P5,LINC00930,ENO1P2,THRAP3P2,MIR3175,CHASERR,HSPE1P3,PRC1-AS1,CRTC3-AS1,VPS33B-DT,LINC01585,RN7SL363P,NDUFA3P4,RN7SL736P,ST8SIA2,IQGAP1,RCCD1-AS1,SV2B,PRC1,CIB1,SEMA4B,GABARAPL3
thomas_15_DD/ID/EP_discovery_cases-case9
Not reported
De novo
BLM,CHD2,FES,SLCO3A1,VPS33B,UNC45A,CRTC3,RCCD1,C15orf32,HDDC3,FAM174B,DUXAP6,HMGN1P38,H2AZ2P1,ASB9P1,NPM1P5,MAN2A2,FURIN,LINC00930,ENO1P2,THRAP3P2,MIR3175,CHASERR,HSPE1P3,PRC1-AS1,VPS33B-DT,CRTC3-AS1,LINC01585,RN7SL363P,IQGAP1,ST8SIA2,RCCD1-AS1,PRC1,SV2B
walker_13_ASD_discovery_cases-case8-14144-2420
Unknown
Simplex
Unknown
GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
wang_18_TS_discovery_cases-caseM_RU_30.p1
qPCR
De novo
MIR6766,MIR9-3,RPL36AP43,RNU6-132P,MESP1,MRPL15P1,MIR5094,MIR5009,RNU6-1111P,RNU7-111P,MIR3174,RN7SL346P,POLG,RHCG,TICRR,PLIN1,PEX11A,WDR93,MESP2,ANPEP,AP3S2,ARPIN,ZNF710-AS1,IDH2,IDH2-DT,FANCI,MIR9-3HG,LINC00928,KIF7,ZNF710,SEMA4B
woodbury-smith_14_ASD_discovery_cases-case13
Paternal
Possible multi-generational (CNV transmitted from BAP-defined parent to ASD diagnosed offspring)
Unknown
SPG11,PATL2
xu_16_ASD/DD/ID_discovery_cases-case9
Maternal
DUXAP6,NPM1P5,ENO1P2,C15orf32,LINC00930,SLCO3A1,ST8SIA2,FAM174B
yin_16_ASD_discovery_cases-case484
Unknown
Unknown
Unknown
FANCI
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036020196_
Unknown
engchuan_15_ASD_discovery_controls-control110036022127_
Unknown
engchuan_15_ASD_discovery_controls-controlB141230_1007874883
Unknown
GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
engchuan_15_ASD_discovery_controls-controlB287525_1007875241
Unknown
engchuan_15_ASD_discovery_controls-controlB338193_1007852606
Unknown
RN7SL736P,GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
engchuan_15_ASD_discovery_controls-controlB413051_1007853900
Unknown
GABARAPL3,NDUFA3P4,GOLGA2P8,ZNF774,IQGAP1
engchuan_15_ASD_discovery_controls-controlB467732_1007842340
Unknown
HMGN1P38,H2AFVP1,FAM174B
engchuan_15_ASD_discovery_controls-controlB742876_1007852892
Unknown
GABARAPL3,NDUFA3P4,ZNF774,IQGAP1
engchuan_15_ASD_discovery_controls-controlB772514_1007874267
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900346_900346
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900579_900579
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900958_900958
Unknown
IQGAP1,CRTC3
kanduri_15_ASD_discovery_controls-control_split1183
Unknown
Intergenic CNV: nearest genes, RGMA(dist=94214),MCTP2(dist=911383)
krumm_13_ASD_discovery_controls-control12651.s1
Paternal
Simplex
RCCD1,UNC45A
krumm_15_ASD_discovery_controls-control11463.s1
Illumina 1M
Maternal
FANCI
krumm_15_ASD_discovery_controls-control12651.s1
Illumina 1MDuo
Paternal
RCCD1,UNC45A
krumm_15_ASD_discovery_controls-control13682.s1
1M-Duov3
Paternal
CIB1,SEMA4B
levy_11_ASD_discovery_controls-12240.s1
Maternal
Simplex
NA
RN7SL346P,RPS12P26,CIB1,IDH2-DT,GDPGP1,TTLL13P,NGRN,SEMA4B
nord_11_ASD_discovery_controls-04C26602
0 genes
nord_11_ASD_discovery_controls-04C27853
0 genes
nord_11_ASD_discovery_controls-04C28495
WDR93
sanders_11_ASD_discovery_controls-11094.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11141.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11158.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11545.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11556.s1
Paternal
Simplex (quad)
NA
FANCI
sanders_11_ASD_discovery_controls-11868.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11922.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11999.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12240.s1
Maternal
Simplex (quad)
NA
RN7SL346P,RPS12P26,CIB1,RN7SL736P,IDH2-DT,GDPGP1,TTLL13P,NGRN,GOLGA2P8,SEMA4B
sanders_11_ASD_discovery_controls-12329.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12651.s1
Paternal
Simplex (quad)
NA
RCCD1,UNC45A
sanders_11_ASD_discovery_controls-12655.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12676.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12921.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available