20p12.3CNV Type: Deletion-Duplication
Largest CNV size: 1472685 bp
Statistics Box:
Number of Reports: 23
Number of Reports: 23
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Duplication
Genomic insights from a deeply phenotyped highly consanguineous neurodevelopmental disorders cohort
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
476015
1
0
1
akter_24_ASD/ADHD/DD/ID_discovery_cases
Individuals clinically diagnosed with one or more neurodevelopmental disorders (NDDs) by neurologists from July 2019 to December 2022 from multiple tertiary hospitals across Bangladesh.
576
Cases presented with one or more neurodevelopmental disorders; specific diagnoses of ASD, ADHD, and intellectual disability were made by clinical specialists and complemented by formal assessments, such as ADOS-2 and DSM-5, where appropriate.
98.26% under 18 years of age
67.71% Male
476016
1
0
1
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
480550
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
480000
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
516892
1
3
4
gabriele_17_DD/ID_discovery_cases
Individuals with deletions encompassing the YY1 gene identified within the DECIPHER database and an in-house database containing data from over 8,000 individuals with intellectual disability
13
Recurrent phenotypes of individuals with YY1 deletions included developmental delay, intellectual disability, intrauterine growth retardation, feeding problems, and dysmorphic features
N/A
N/A
473979
0
1
1
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
479542
4
0
4
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
62197
0
1
1
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
711387
0
1
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
1458124
2
4
6
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
2240939
2
1
3
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
38264
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
126723
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
487858
1
5
6
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
500000
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
770231
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
1064000
1
0
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
1564343
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
30200
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
361255
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
23402
2
0
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
1472685
6
7
13
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
57227
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
480000
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
479541
1
2
3
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
711387
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
0
2
2
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
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
126723
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
266779
0
4
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
770231
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
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)
23402
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.
767433
3
4
7
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
57227
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
akter_24_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24+ v3.0
Illumina CNVPartition 3.2.1 plug-in of GenomeStudio
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gabriele_17_DD/ID_discovery_cases
N/A
aCGH, array SNP
Agilent 44K, Agilent 60K, Agilent 400K, Affymetrix 250K NspI
None
gai_11_ASD_discovery_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_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
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
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case20
3 yrs.
F
ASD and developmental delay
Autism, speech delay, temper tantrums, restlessness. Growth parameters: height 0.97 m, weight 20 kg, head circumference 48 cm. Family history: no data on familial consanguinity.
8117650
8593664
476015
GRCh38
Deletion
No
akter_24_ASD/ADHD/DD/ID_discovery_cases-case349
3 yrs.
F
ASD and developmental delay
Developmental milestones: delayed speech and language development. Behavioral/psychiatric evaluation: autism (HP:0000717), atypical behavior (HP:0000708). Growth parameters: head circumference 48 cm, height 97 cm, weight 20 kg.
8117649
8593664
476016
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseSSC10623
N/A
M
ASD
Case from SSC_phase1 cohort
8114304
8594853
480550
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU1368302
NA
F
ASD
NA
NA
8063395
8546868
483474
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14058_1000
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5322007
5838899
516893
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14134_2320
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9034227
9122240
88014
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14259_3820
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5809728
5853042
43315
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8612_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8722605
8790833
68229
GRCh38
Deletion
No
gabriele_17_DD/ID_discovery_cases-case272547
N/A
N/A
Developmental delay
Very active behavior, poor concentration, strabismus, feeding problems, long and slim hands and feet, deviated toes, constipation, dysmorphic features
Mild developmental delay
7306747
7780725
473979
GRCh38
Duplication
gai_11_ASD_discovery_cases-AU1070301
Autism
8922362
8973897
51536
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1070302
Autism
8922362
8973897
51536
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1368302
Autism
8115483
8595024
479542
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1368303
Autism
8115483
8595024
479542
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case628-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
8933297
8995494
62198
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si259
12
M
Autism
ADOS score: 9. Vineland composite score: 79.
No mental retardation/intellectual disability. Full-scale IQ, 132; Verbal IQ, 119; Non-verbal IQ, 137.
7584044
8295431
711388
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-11013.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
7585432
8342587
757156
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13085.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
7136890
8595014
1458125
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13817.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
8114737
8595014
480278
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14249.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
8114737
8595014
480278
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU1887301
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
8114737
8595014
480278
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU2689306
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
8114737
8595014
480278
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000901
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6336607
8577546
2240940
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004560
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7123110
8577546
1454437
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005023
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7123110
8577546
1454437
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1921
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
8162278
8200541
38264
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11013.p1
N/A
M
ASD
ASD proband from SSC quad family 11013. SRS score of 90.
Full-scale IQ (FSIQ) score of 132.
7883592
8010315
126724
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11013.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7883592
8150371
266780
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11393.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
5547660
5598821
51162
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11555.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
5302039
5314371
12333
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13085.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
7883592
8371450
487859
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13609.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
5547660
5604412
56753
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14249.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
8132651
8371450
238800
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1368303
N/A
M
ASD
8104353
8601353
497001
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11013.p1
NA
M
ASD
NA
NA
7567088
8337318
770231
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case16
N/A
M
ASD and developmental delay
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: none reported.
7611088
8675574
1064487
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case11013.p1
NA
M
ASD/Autism
Case also identified with de novo TMPRSS2 missense mutation. No additional clinical info available.
High IQ. Non verbal IQ, 137
6778244
8342587
1564344
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5046_3
NA
M
Autism
Below average language (1%ile), no epilepsy, no dysmorphic features
Unable to complete IQ measure
8607242
8637441
30200
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI3629A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1368302; NDAR ID NDAR_INVFL897HKN)
8010198
8371452
361255
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case117486L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
8316576
8325532
8957
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60980L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
8607417
8630818
23402
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11013.p1
10
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 137; verbal IQ, 119
7568938
8336371
767434
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11031.p1
13.8
M
Aspergers
NA
Full-scale IQ, 118; non-verbal IQ, 110; verbal IQ, 128
5593488
5631240
37753
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
5412507
5637936
225430
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11555.p1
9.1
F
Aspergers
NA
Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
5291064
5303734
12671
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
5790273
5794605
4333
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12202.p1
11.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
8503460
8512003
8544
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12227.p1
12.4
M
Autism
NA
Full-scale IQ, 137; non-verbal IQ, 146; verbal IQ, 106
7719461
7723781
4321
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
6748057
6749142
1086
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12476.p1
8.1
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
7719461
7720480
1020
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12510.p1
7.3
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
5806690
5853042
46353
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
7719461
7723565
4105
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13045.p1
11.1
M
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 38; verbal IQ, 35
5806690
5853042
46353
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13085.p1
14.8
M
ASD
NA
Full-scale IQ, 82; non-verbal IQ, 78; verbal IQ, 95
7122339
8595024
1472686
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case581
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
8535409
8592635
57227
GRCh38
Duplication
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-controlB655980_1007875789
N/A
N/A
Control
No previous psychiatric history
5815138
5853042
37905
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
N/A
N/A
Control
No previous psychiatric history
8115483
8595024
479542
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902469_902469
N/A
N/A
Control
No previous psychiatric history
5298223
5416682
118460
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control42
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
girirajan_13a_ASD_discovery_controls2-control43
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
krumm_13_ASD_discovery_controls-control11013.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11013. SRS score of 47.
7883592
8010315
126724
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11013.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
7883592
8150371
266780
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11393.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
5547660
5598821
51162
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13609.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
5547660
5604412
56753
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13613.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
5547660
5773043
225384
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11013.s1
NA
M
Control
NA
NA
7567088
8337318
770231
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11013.s1
7.4
M
Control (matched sibling)
NA
NA
7568938
8336371
767434
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11031.s1
12
M
Control (matched sibling)
NA
NA
5601811
5631240
29430
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
5412507
5637936
225430
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11901.s1
7.5
F
Control (matched sibling)
NA
NA
8163993
8186369
22377
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
8056303
8058023
1721
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12373.s1
11.7
F
Control (matched sibling)
NA
NA
8231202
8301053
69852
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
6748057
6749142
1086
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case20
Unknown
PLCB1-IT1,PLCB1
akter_24_ASD/ADHD/DD/ID_discovery_cases-case349
Unknown
PLCB1-IT1,PLCB1
brandler_18_ASD_discovery_cases-caseSSC10623
PCR or SNP data validation
Maternal
PLCB1-IT1,PLCB1
christian_08_ASD_discovery_cases-AU1368302
FISH, microsatellite
inherited
Multiplex
NA
PHKBP1,PLCB1-IT1,PLCB1
engchuan_15_ASD_discovery_cases-case14058_1000
Unknown
RNA5-8SP7,LINC00654,LINC01729,RPS18P1,EIF4EP1,LINC00658,GPCPD1,SHLD1
engchuan_15_ASD_discovery_cases-case14134_2320
Unknown
PLCB4
engchuan_15_ASD_discovery_cases-case14259_3820
Unknown
SHLD1
engchuan_15_ASD_discovery_cases-case8612_201
Unknown
PLCB1
gabriele_17_DD/ID_discovery_cases-case272547
Inherited
Unknown
MIR8062,RN7SL547P,LINC01751,LINC01706
gai_11_ASD_discovery_cases-AU1070301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1070302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1368302
Inherited
PLCB1-IT1,PLCB1
gai_11_ASD_discovery_cases-AU1368303
Inherited
PLCB1-IT1,PLCB1
gazzellone_14_ASD_discovery_cases-case628-3
Unknown
Unknown
Unknown
PLCB1
girirajan_11_ASD_discovery_cases-Si259
Unknown
Simplex
RN7SL547P,PHKBP1,PLCB1-IT1,HAO1,TMX4,PLCB1
girirajan_13a_ASD_discovery_cases-11013.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
RN7SL547P,PHKBP1,PLCB1-IT1,HAO1,TMX4,PLCB1
girirajan_13a_ASD_discovery_cases-13085.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MIR8062,RN7SL547P,PHKBP1,PLCB1-IT1,LINC01751,LINC01706,HAO1,LINC01428,TMX4,PLCB1
girirajan_13a_ASD_discovery_cases-13817.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
PLCB1-IT1,PLCB1
girirajan_13a_ASD_discovery_cases-14249.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
PLCB1-IT1,PLCB1
girirajan_13a_ASD_discovery_cases-AU1887301
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
PLCB1-IT1,PLCB1
girirajan_13a_ASD_discovery_cases-AU2689306
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
PLCB1-IT1,PLCB1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000901
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
BMP2,MIR8062,RN7SL547P,PHKBP1,PLCB1-IT1,CASC20,LINC01713,LINC01751,LINC01706,HAO1,LINC01428,TMX4,PLCB1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004560
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR8062,RN7SL547P,PHKBP1,PLCB1-IT1,LINC01751,LINC01706,HAO1,LINC01428,TMX4,PLCB1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005023
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR8062,RN7SL547P,PHKBP1,PLCB1-IT1,LINC01751,LINC01706,HAO1,LINC01428,TMX4,PLCB1
kanduri_15_ASD_discovery_cases-case1921
Paternal
Unknown
Unknown
PLCB1 (intronic)
krumm_13_ASD_discovery_cases-case11013.p1
Maternal
Simplex
Not segregated
HAO1,TMX4
krumm_15_ASD_discovery_cases-case11013.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
PHKBP1,HAO1,TMX4,PLCB1
krumm_15_ASD_discovery_cases-case11393.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
EIF4EP1,GPCPD1
krumm_15_ASD_discovery_cases-case11555.p1
Illumina 1M
Maternal
Simplex
Segregated
PROKR2
krumm_15_ASD_discovery_cases-case13085.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PHKBP1,PLCB1-IT1,HAO1,TMX4,PLCB1
krumm_15_ASD_discovery_cases-case13609.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
EIF4EP1,GPCPD1
krumm_15_ASD_discovery_cases-case14249.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PLCB1-IT1,PLCB1
leppa_16_ASD_discovery_cases-AU1368303
Maternal
Multiplex
Not segregated (CNV not present in affected sibling)
PLCB1-IT1,PLCB1
levy_11_ASD_discovery_cases-11013.p1
Maternal
Simplex
Not segregated
RN7SL547P,PHKBP1,PLCB1-IT1,HAO1,TMX4,PLCB1
monteiro_19_ASD_discovery_cases_case16
Unknown
RN7SL547P,PHKBP1,PLCB1-IT1,HAO1,TMX4,PLCB1
o'roak_12_ASD_discovery_cases-case11013.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
BMP2,MIR8062,RN7SL547P,PHKBP1,PLCB1-IT1,LINC01751,LINC01706,HAO1,LINC01428,TMX4,PLCB1
pinto_10_ASD_discovery_cases-case5046_3
qPCR
De novo
Multiplex
Not segregated
MACROD2 exonic
poultney_13_ASD_discovery_cases-case05HI3629A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PHKBP1,PLCB1-IT1,TMX4,PLCB1
prasad_12_ASD_discovery_cases-case117486L
Unknown
Unknown
Unknown
PLCB1
prasad_12_ASD_discovery_cases-case60980L
Unknown
Unknown
Unknown
PLCB1
sanders_11_ASD_discovery_cases-11013.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RN7SL547P,PHKBP1,PLCB1-IT1,HAO1,TMX4,PLCB1
sanders_11_ASD_discovery_cases-11031.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GPCPD1
sanders_11_ASD_discovery_cases-11393.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC00654,LINC01729,RPS18P1,EIF4EP1,LINC00658,GPCPD1
sanders_11_ASD_discovery_cases-11555.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
UBE2D3P1,PROKR2
sanders_11_ASD_discovery_cases-11721.p1
Paternal
Simplex (quad-proband matched)
Segregated
SHLD1
sanders_11_ASD_discovery_cases-12202.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PLCB1
sanders_11_ASD_discovery_cases-12227.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12435.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12476.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12510.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SHLD1
sanders_11_ASD_discovery_cases-12757.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13045.p1
Maternal
Simplex (trio)
NA
SHLD1
sanders_11_ASD_discovery_cases-13085.p1
Paternal
Simplex (trio)
NA
MIR8062,RN7SL547P,PHKBP1,PLCB1-IT1,LINC01751,LINC01706,HAO1,LINC01428,TMX4,PLCB1
yin_16_ASD_discovery_cases-case581
Unknown
Unknown
Unknown
PLCB1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB655980_1007875789
Unknown
SHLD1
engchuan_15_ASD_discovery_controls-controlHABC_902443_902443
Unknown
PLCB1-IT1,PLCB1
engchuan_15_ASD_discovery_controls-controlHABC_902469_902469
Unknown
RNA5-8SP7,PROKR2
girirajan_13a_ASD_discovery_controls2-control42
Unknown
PLCB1
girirajan_13a_ASD_discovery_controls2-control43
Unknown
PLCB1
krumm_13_ASD_discovery_controls-control11013.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
HAO1,TMX4
krumm_15_ASD_discovery_controls-control11013.s1
Illumina 1M
Maternal
PHKBP1,HAO1,TMX4,PLCB1
krumm_15_ASD_discovery_controls-control11393.s1
Illumina 1MDuo
Paternal
EIF4EP1,GPCPD1
krumm_15_ASD_discovery_controls-control13609.s1
Omni2.5-4v1
Paternal
EIF4EP1,GPCPD1
krumm_15_ASD_discovery_controls-control13613.s1
Omni2.5-4v1
Paternal
EIF4EP1,GPCPD1,SHLD1
levy_11_ASD_discovery_controls-11013.s1
Maternal
Simplex
NA
RN7SL547P,PHKBP1,PLCB1-IT1,HAO1,TMX4,PLCB1
sanders_11_ASD_discovery_controls-11013.s1
Maternal
Simplex (quad)
NA
RN7SL547P,PHKBP1,PLCB1-IT1,HAO1,TMX4,PLCB1
sanders_11_ASD_discovery_controls-11031.s1
Paternal
Simplex (quad)
NA
GPCPD1
sanders_11_ASD_discovery_controls-11393.s1
Paternal
Simplex (quad)
NA
LINC00654,LINC01729,RPS18P1,EIF4EP1,LINC00658,GPCPD1
sanders_11_ASD_discovery_controls-11901.s1
Paternal
Simplex (quad)
NA
PLCB1
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12373.s1
Paternal
Simplex (quad)
NA
PLCB1-IT1,PLCB1
sanders_11_ASD_discovery_controls-13076.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available