16q24.1CNV Type: Deletion-Duplication
Largest CNV size: 510000 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
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.
Duplication
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
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
A large data resource of genomic copy number variation across neurodevelopmental disorders
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Identifying autism loci and genes by tracing recent shared ancestry.
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
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
2070
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
510000
0
1
1
dharmadhikari_14_ASD/ID_discovery_cases
Four cases with 16q24.1 duplications involving the FOXF1 gene: two from Medical Genetics Laboratories at Baylor College of Medicine; one from the Medical Genetics Center, Munich, Germany; and one reported in DECIPHER (265898) from the Saint Vincent de Paul Catholic Hospitals Association of Lille, Free Faculty of Medicine, Lille, France
4
Three cases with neurodevelopmental phenotypes [case 1 diagnosed with speech delay and behavioral problems; case 2 diagnosed with autism (based on DSM-V), with additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder; case 4 diagnosed with speech delay, motor delay, and borderline intellectual disability]; one case (case 3) with normal psychomotor development but diagnosis with pyloric stenosis, mesenterium commune, aplasia of the appendix, and multiple sclerosis.
Range, 4 yrs. 2 mos.-47 yrs.
75% Male
447488
0
3
3
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
180000
0
1
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
635893
2
6
8
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
274396
1
0
1
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
42341
1
1
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
119323
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1075497
3
2
5
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
923626
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
96212
0
1
1
morrow_08_ASD_discovery_cases
Affected individuals from 70 families (52 simplex, 18 multiplex) recruited by Homozygosity Mapping Collaborative for Autism (HMCA) used in CNV analysis. This cohort was selected from an original population of affected individuals from 104 families (79 simplex, 25 multiplex; 82.7% male); 88 of these pedigrees have cousin marriages.
94
ASD (based on DSM-IV-TR diagnoses when research scales not available in native language)
58600
1
0
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
31200
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
86000
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
39862
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
87370
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)
66841
1
1
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
209851
4
0
4
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
94347
8
1
9
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
1061312
0
1
1
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
42000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
82276
2
0
2
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
510000
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
427455
4
2
6
handrigan_13_ASD/DD/ID_discovery_controls
Microarray data from population-based control individuals [4783 controls from the Wellcome Trust Case Control Consortium (WTCCC), 1123 PopGen controls from Germany, 1234 controls from the Ottawa Heart Institute, 1056 controls from HapMap, 1287 controls from SAGE, 1120 population controls from Ontario, and 416 controsl from the Ontario Population Genomics Platform]
11019
Control
NA
NA
30761
1
0
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
99077
0
1
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
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
75135
4
1
5
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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)
130298
1
1
2
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)
209851
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.
94347
9
1
10
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
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
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
dharmadhikari_14_ASD/ID_discovery_cases
2 cases from United States, 1 case from Germany, 1 case from France
aCGH
Agilent/BCM V8.1.1 OLIGO 180 K, Agilent/BCM V9.1.1 OLIGO 400 K, BlueGnome CytoChip v1.0 180K, Agilent 8x60K
aCGH, LR-PCR
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
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)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
morrow_08_ASD_discovery_cases
Arabic Middle East, Turkey, and Pakistan
Array SNP
Affymetrix 500K
BRLMM
dChip
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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
qPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
handrigan_13_ASD/DD/ID_discovery_controls
NA
N/A
N/A
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)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
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-caseSSC09641
N/A
M
ASD
Case from SSC_phase1 cohort
84703412
84705482
2071
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU079605
NA
M
ASD
NA
NA
86268454
86778894
510441
GRCh38
Duplication
Yes
dharmadhikari_14_ASD/ID_discovery_cases-case1
4 yrs. 2 mos.
M
Speech delay and behavioral problems
Birth/neonatal history: maternal complications prior to delivery (placenta previa); born at term by spontaneous vaginal delivery; birth weight of 3.2 kg. Developmental milestones: sat unassisted at 5 months, began walking at 9 months. Language and communication evaluation: speech delay; very limited in number of words used. Behavioral/psychiatric evaluation: found to be anxious, hyperactive, uncooperative, aggressive, and impulsive. Sleep disturbances: sweating at night, bedwetting. Additional medical history: complains of abdominal pain and feels naseous every 2-3 weeks (no vomiting); normal pulmonary findings; has had numerous viral upper respiratory infections; hospitalized around 18 months of age for pneumonia. Dysmorphic features: broad forehead, sparse eyebrows, mildly low-set ears, nasal features with small alae, broad tip, and broad bridge, brachydactyly of fingers and toes, one cafe-au-lait macule on left flank. Family history: third child of a non-consanguineous 20-year-old mother and 22-year-old father (both reportedly in good health with no learning, speech, or lung problems).
86506364
86522009
15646
GRCh38
Duplication
Yes
dharmadhikari_14_ASD/ID_discovery_cases-case2
13 yrs.
M
Autism
Case diagnosed with autism (based on DSM-V); additional diagnoses of unspecified mood and anxiety disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and emotional disorder. Motor and musculoskeletal evaluation: delay in fine motor skills. Behavioral/psychiatric evaluation: extremely aggressive, poor social skills, poor eye contact. Additional medical history: other than remote history of asthma, no evidence of lung abnormalities. Growth parameters: height of 141.5 cm (12th %ile), weight of 32.95 kg (10th %ile), and head circumference of 52.5 cm (24th %ile) at age of 12 years. Family history: father diagnosed with bipolar disorder.
86248488
86680709
432222
GRCh38
Duplication
Yes
dharmadhikari_14_ASD/ID_discovery_cases-case3
47 yrs.
F
Non-NDD diagnosis
Case with normal psychomotor development. Diagnosis of pyloric stenosis, mesenterium commune, and aplasia of the appendix at age of 2 years, diagnosis of multiple sclerosis at age of 42 years. Family history: 13-year-old daughter presents with similar symptoms (also carries FOXF1 duplication); case's father also presented with similar symptoms (DNA not available for testing).
86161184
86608672
447489
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_300165
N/A
F
Developmental delay/intellectual disability
85909123
86089351
180229
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16064_1571160001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84962052
85047982
85931
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4365_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84397270
84455427
58158
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5253_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85429375
85490251
60877
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6008_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84396739
84511002
114264
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6287_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84159384
84795276
635893
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8636_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85262625
85637330
374706
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8636_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
85130995
85230276
99282
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case9745_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
84889131
84948368
59238
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004190
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85568964
85843360
274397
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2964
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.
85620902
85663242
42341
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case3087
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.
85768265
85790981
22717
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11412.p1
N/A
M
ASD
ASD proband from SSC quad family 11412. SRS score of 70.
Full-scale IQ (FSIQ) score of 107.
84659759
84779082
119324
GRCh38
Deletion
No (False Positive)
krumm_13_ASD_discovery_cases-case11964.p1
N/A
F
ASD
ASD proband from SSC quad family 11964. SRS score of 90.
Full-scale IQ (FSIQ) score of 40.
84405127
84425801
20675
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11327.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
84845785
85921282
1075498
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11657.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
84850567
84889363
38797
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11964.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
84405127
84425801
20675
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12798.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
84398498
84448689
50192
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13905.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
84398498
84498086
99589
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ1797
46 yrs.
F
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
84593050
85516675
923626
GRCh38
Deletion
N/A
levy_11_ASD_discovery_cases-11005.p1
NA
M
ASD
NA
NA
86337331
86433542
96212
GRCh38
Duplication
No
morrow_08_ASD_discovery_cases-case5801
NA
ASD
NA
NA
84639000
84697000
58600
Unknown
Deletion
No
napoli_17_ASD_discovery_cases-case16
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
84276413
84307672
31260
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam725Proband8602
N/A
F
ASD
Additional clinical profile info N/A
No ID
84414399
84500760
86362
GRCh38
Deletion
No
o'roak_12_ASD_discovery_cases-case11964.p1
NA
F
ASD/Autism
Case also identified with de novo TEPP and ZC3H12B missense mutations. No additional clinical info available.
Low IQ. Non verbal IQ, 40
84399428
84439290
39863
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case6356_5
NA
M
Autism
No language delay, normal physical exam, no epilepsy
Moderate MR
82800294
82887663
87370
Unknown
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI1937A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU079605; NDAR ID NDAR_INVUF090YFQ)
86512923
86579763
66841
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0587A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU020003; NDAR ID NDAR_INVRL878MR0)
84872440
84880586
8147
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100678L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
82952795
82965146
12352
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case134413
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
84541704
84751554
209851
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case84319
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
84830777
84852707
21931
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case85907
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
84034471
84077822
43352
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
86239673
86262096
22424
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11491.p1
7.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 63; verbal IQ, 44
84224205
84245645
21441
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11657.p1
4.9
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
84800778
84895125
94348
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
84399428
84436552
37125
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12572.p1
14.9
M
Autism
NA
Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
86606056
86620868
14813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12604.p1
4.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 85; verbal IQ, 75
86205475
86225430
19956
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12798.p1
4.8
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 73; verbal IQ, 65
84374152
84451458
77307
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12828.p1
9.3
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 57; verbal IQ, 66
84298994
84304076
5083
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
85269101
85270519
1419
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0128-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
84186224
85247535
1061312
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU053003
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
85633864
85676256
42393
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC09444
N/A
F
Control
Control from SSC cohort
84413072
84495348
82277
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_controls-controlSSC09685
N/A
M
Control
Control from SSC_phase1 cohort
84703412
84705482
2071
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
N/A
N/A
Control
No previous psychiatric history
86253144
86680599
427456
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900051_900051
N/A
N/A
Control
No previous psychiatric history
85287877
85330709
42833
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900216_900216
N/A
N/A
Control
No previous psychiatric history
84526879
84562652
35774
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900492_900492
N/A
N/A
Control
No previous psychiatric history
84495697
84537822
42126
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900801_900801
N/A
N/A
Control
No previous psychiatric history
84396739
84511467
114729
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901066_901066
N/A
N/A
Control
No previous psychiatric history
84403617
84436552
32936
GRCh38
Deletion
No
handrigan_13_ASD/DD/ID_discovery_controls-control1
NA
NA
Control
Control from HapMap
86797540
86828300
30761
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1079
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
84487056
84586132
99077
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control11355.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84700090
84775225
75136
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11657.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84838495
84889363
50869
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12041.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84448532
84480708
32177
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12798.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84398498
84448689
50192
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13874.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
84415482
84487059
71578
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C29259A
N/A
F
Control
NIMH Control (NIMH ID 86407)
84196645
84326942
130298
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C45248
N/A
M
Control
NIMH Control (NIMH ID 26029)
84758716
84854831
96116
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
84800778
84895125
94348
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
84448283
84480735
32453
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
85269101
85270519
1419
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
84224205
84245645
21441
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12347.s1
7.3
F
Control (matched sibling)
NA
NA
85306834
85314993
8160
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
86606056
86620868
14813
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12798.s1
8.1
F
Control (matched sibling)
NA
NA
84374152
84451458
77307
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12930.s1
14.8
M
Control (matched sibling)
NA
NA
85269101
85270519
1419
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13168.s1
4.7
F
Control (matched sibling)
NA
NA
85269101
85270519
1419
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13301.s1
12.3
M
Control (matched sibling)
NA
NA
86239673
86262096
22424
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-caseSSC09641
PCR or SNP data validation
Maternal
USP10
christian_08_ASD_discovery_cases-AU079605
FISH, microsatellite
inherited
Multiplex
NA
LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC02189,LINC00917,MTHFSD,FLJ30679,LINC02188,LINC01081,FENDRR
dharmadhikari_14_ASD/ID_discovery_cases-case1
aCGH
Paternal
Unknown
Unknown
FOXF1,FENDRR
dharmadhikari_14_ASD/ID_discovery_cases-case2
aCGH
Possibly paternal
Paternal
Possible multi-generational (father with bipolar disorder)
Possibly segregated
LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC00917,MTHFSD,FLJ30679,LINC01081,FENDRR
dharmadhikari_14_ASD/ID_discovery_cases-case3
LR-PCR
Possibly paternal
Unknown
Multi-generational
Possibly segregated
LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC01082,LINC00917,MTHFSD,FLJ30679,LINC01081,FENDRR
digregorio_17_DD/ID_discovery_cases-DECIPHER_300165
Maternal
MIR6774,LINC02132,IRF8
engchuan_15_ASD_discovery_cases-case16064_1571160001
Unknown
ZDHHC7,KIAA0513
engchuan_15_ASD_discovery_cases-case4365_1
Unknown
ATP2C2
engchuan_15_ASD_discovery_cases-case5253_3
Unknown
GSE1
engchuan_15_ASD_discovery_cases-case6008_4
Unknown
ATP2C2-AS1,ATP2C2
engchuan_15_ASD_discovery_cases-case6287_3
Unknown
ADAD2,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,DNAAF1,ATP2C2
engchuan_15_ASD_discovery_cases-case8636_201
Unknown
COX6CP16,LINC00311,MIR5093,GSE1
engchuan_15_ASD_discovery_cases-case8636_201
Unknown
LINC02139,GSE1
engchuan_15_ASD_discovery_cases-case9745_201
Unknown
CRISPLD2,LINC02176
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004190
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RN7SL381P,MIR1910,RNU1-103P,GINS2,EMC8,COX4I1,GSE1,C16orf74
kanduri_15_ASD_discovery_cases-case2964
Maternal
Unknown
Unknown
GSE1
kanduri_15_ASD_discovery_cases-case3087
De novo
Unknown
Unknown
C16orf74
krumm_13_ASD_discovery_cases-case11412.p1
Solid phase hybridization (Illumina 1M) (not tested by aCGH)
Maternal
Simplex
Segregated
KLHL36,USP10
krumm_13_ASD_discovery_cases-case11964.p1
Maternal
Simplex
Segregated
ATP2C2
krumm_15_ASD_discovery_cases-case11327.p1
Illumina 1M
De novo
Simplex
Segregated
COX6CP16,LINC00311,MIR5093,RN7SL381P,MIR1910,RNU1-103P,MIR6774,CRISPLD2,ZDHHC7,FAM92B,LINC02139,GINS2,EMC8,COX4I1,IRF8,KIAA0513,GSE1,C16orf74,LINC02176
krumm_15_ASD_discovery_cases-case11657.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
CRISPLD2
krumm_15_ASD_discovery_cases-case11964.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ATP2C2
krumm_15_ASD_discovery_cases-case12798.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ATP2C2
krumm_15_ASD_discovery_cases-case13905.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ATP2C2-AS1,ATP2C2
kushima_18_SCZ_discovery_cases-caseSCZ1797
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
COX6CP16,LINC00311,MIR5093,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,KIAA0513,GSE1,LINC02176
levy_11_ASD_discovery_cases-11005.p1
Maternal
Simplex
Segregated
LINC00917
morrow_08_ASD_discovery_cases-case5801
Maternal
NA
NA
3' end of IRF8
napoli_17_ASD_discovery_cases-case16
RT-PCR
Paternal
WFDC1
nava_13_ASD_discovery_cases-Fam725Proband8602
Unknown
Simplex
Unknown
ATP2C2-AS1,ATP2C2
o'roak_12_ASD_discovery_cases-case11964.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
ATP2C2
pinto_10_ASD_discovery_cases-case6356_5
qPCR
maternal
Simplex
NA
WFDC1 exonic, KCNG4 whole
poultney_13_ASD_discovery_cases-case01HI1937A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FOXF1,FOXC2-AS1,FOXC2,FOXL1,MTHFSD,FLJ30679
poultney_13_ASD_discovery_cases-case98HI0587A
qPCR
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CRISPLD2
prasad_12_ASD_discovery_cases-case100678L
qPCR
Maternal
Unknown
Unknown
ATP2C2
prasad_12_ASD_discovery_cases-case134413
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case84319
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85907
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11333.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC01081
sanders_11_ASD_discovery_cases-11491.p1
Paternal
Simplex (quad-proband matched)
Segregated
KCNG4
sanders_11_ASD_discovery_cases-11657.p1
Maternal
Simplex (quad-proband matched)
Segregated
CRISPLD2
sanders_11_ASD_discovery_cases-11964.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP2C2
sanders_11_ASD_discovery_cases-12572.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12604.p1
Maternal
Simplex (trio)
NA
LINC01081
sanders_11_ASD_discovery_cases-12798.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ATP2C2
sanders_11_ASD_discovery_cases-12828.p1
Maternal
Simplex (trio)
NA
WFDC1
sanders_11_ASD_discovery_cases-12956.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GSE1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0128-003
RT-qPCR or WGS
Unknown
ADAD2,TAF1C,KCNG4,RNA5SP433,WFDC1,ATP2C2-AS1,COTL1,KLHL36,USP10,CRISPLD2,ZDHHC7,FAM92B,LINC02139,ATP2C2,MEAK7,KIAA0513,GSE1,LINC02176
null
zhou_19_ASD_discovery_cases-caseAU053003
qPCR
Inherited
RN7SL381P,GINS2,GSE1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC09444
SNP VCF
De novo
ATP2C2-AS1,ATP2C2
brandler_18_ASD_discovery_controls-controlSSC09685
PCR or SNP data validation
Maternal
USP10
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
Unknown
LINC02135,FOXF1,FOXC2-AS1,FOXC2,FOXL1,LINC00917,MTHFSD,FLJ30679,LINC01081,FENDRR
engchuan_15_ASD_discovery_controls-controlHABC_900051_900051
Unknown
MIR5093,GSE1
engchuan_15_ASD_discovery_controls-controlHABC_900216_900216
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900492_900492
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900801_900801
Unknown
ATP2C2-AS1,ATP2C2
engchuan_15_ASD_discovery_controls-controlHABC_901066_901066
Unknown
ATP2C2
handrigan_13_ASD/DD/ID_discovery_controls-control1
Unknown
kanduri_15_ASD_discovery_controls-control_split1079
Unknown
ATP2C2,TLDC1
krumm_15_ASD_discovery_controls-control11355.s1
Illumina 1M
De novo
USP10
krumm_15_ASD_discovery_controls-control11657.s1
Illumina 1MDuo
Maternal
CRISPLD2
krumm_15_ASD_discovery_controls-control12041.s1
Illumina 1MDuo
Maternal
ATP2C2-AS1,ATP2C2
krumm_15_ASD_discovery_controls-control12798.s1
Illumina 1MDuo
Maternal
ATP2C2
krumm_15_ASD_discovery_controls-control13874.s1
Omni2.5-4v1
De novo
ATP2C2-AS1,ATP2C2
poultney_13_ASD_discovery_controls-control04C29259A
Unknown
ADAD2,KCNG4,RNA5SP433,WFDC1
poultney_13_ASD_discovery_controls-control05C45248
Unknown
USP10,CRISPLD2
sanders_11_ASD_discovery_controls-11657.s1
Both parents
Simplex (quad)
NA
CRISPLD2
sanders_11_ASD_discovery_controls-12041.s1
Maternal
Simplex (quad)
NA
ATP2C2-AS1,ATP2C2
sanders_11_ASD_discovery_controls-12061.s1
Unknown
Simplex (quad)
NA
GSE1
sanders_11_ASD_discovery_controls-12341.s1
Paternal
Simplex (quad)
NA
KCNG4
sanders_11_ASD_discovery_controls-12347.s1
Unknown
Simplex (quad)
NA
GSE1
sanders_11_ASD_discovery_controls-12572.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12798.s1
Maternal
Simplex (quad)
NA
ATP2C2
sanders_11_ASD_discovery_controls-12930.s1
Unknown
Simplex (quad)
NA
GSE1
sanders_11_ASD_discovery_controls-13168.s1
Unknown
Simplex (quad)
NA
GSE1
sanders_11_ASD_discovery_controls-13301.s1
Maternal
Simplex (quad)
NA
LINC01081
No Animal Model Data Available