2q32.1CNV Type: Deletion-Duplication
Largest CNV size: 2158000 bp
Statistics Box:
Number of Reports: 27
Number of Reports: 27
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Structural variation of chromosomes 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
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
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.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
73854
1
0
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
33108
0
1
1
chung_11_ASD_discovery_cases
Autistic female proband; second child of healthy, non-consanguineous parents (first child developmentally normal)
1
ASD (ADI-R and ADOS, Module 3)
12
Female
105555
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
1339119
21
3
24
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
159655
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
174737
1
0
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
124380
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
989000
0
1
1
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1692820
0
1
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
2773999
0
1
1
guo_20_DD_discovery_cases
Female patient with a de novo 2q32.1 deletion affecting the NCKAP1 gene assessed at Odense University Hospital
1
Case presented with developmental delay, learning disability, autistic features, and seizures
15 yrs.
Female
420280
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
761367
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
13840
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
913430
0
1
1
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
53407
1
0
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
30655
1
0
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
53408
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
32494
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
186786323
2
0
2
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
117066
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
37789
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
46475
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)
15986
0
1
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
138832
6
1
7
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
59952
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
247685
44
4
48
schmitz-abe_20_ASD_discovery_cases
ASD probands rom 187 families from the Homozygosity Mapping Collaborative of Autism (HMCA); 22% of families had more than one affected child, and 66% of families were consanguineous.
255
Diagnosis of autism or ASD made by a neurologist, child psychiatrist, or psychologist; DSM-IV-R criteria confirmed in all individuals with an Autism diagnosis
N/A
N/A
8001
2
0
2
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
2158000
0
2
2
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
391000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
0
0
0
0
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
1006452
20
7
27
gregory_09_ASD_discovery_controls
Samples from 27 sex-mismatched hybridizations
54
Controls
50% Male
1917500
0
1
1
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1692820
0
0
0
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
69427
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
9129
0
1
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
32494
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.
43489
1
0
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)
138832
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.
247685
33
6
39
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
chung_11_ASD_discovery_cases
Scottish-Canadian
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
guo_20_DD_discovery_cases
Denmark
aCGH
Agilent 400K
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_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
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
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
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
schmitz-abe_20_ASD_discovery_cases
Middle Eastern
Array SNP
Affymetrix 6.0, Affymetrix 500K
qPCR
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
gregory_09_ASD_discovery_controls
aCGH
BACs aCGH
BioDiscovery RSA
Bluefuse, Nexus
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al_shehhi_18_ASD/DD/ID_discovery_cases-case10
2 yrs. 9 mos.
F
Developmental delay and epilepsy/seizures
Speech and language delay, seizures, sensorineural hearing loss
Learning disability
185718621
185792474
73854
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB137
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
184569827
184602934
33108
GRCh38
Duplication
Yes
chung_11_ASD_discovery_cases-proband
12
F
ASD
Diagnosed with ASD at 8 using ADI-R & ADOS, Module 3. Moderate language delay. Comorbid behavior includes anxiety disorders, aggressive behaviors, self-injurious behaviors, sleep disturbances, & trichotillomania. No history of developmental regression. No history of seizures; normal EEG. Dysmorphic features: high anterior hairline, long face with prognathism, long nose, broad nasal bridge with underdeveloped alae nasi, asymmetic ears, narrow mouth. Camptodactyly, mild 2/3 cutaneous syndactyly, flat narrow feet, shortened 5th toes. Normal eyes and eyebrows. Prominent hypotonia. Brain MRI at 5 revealed mild prominence of Virchow-Robin spaces without any structural abnormalities. Growth parameters: height, weight, & head circumference all >97th %ile.
WISC-IV assessment: at 7 yrs., 32nd %ile (average range); at 9 yrs., 2nd-8th %ile (borderline range)
185983043
186088597
105555
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13082_963
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187229815
187285501
55687
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14266_3890
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
182204117
183543235
1339119
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14271_3940
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
184234958
184270717
35760
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18182_303
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
184153199
184199673
46475
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20096_1419001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
183708421
183743588
35168
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20110_1510001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187238749
187291698
52950
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20136_1236021
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
186250304
186369471
119168
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20143_1506001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187225074
187285501
60428
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20152_1637001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187225074
187285501
60428
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3127_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185669668
185726099
56432
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3202_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
183839638
184326561
486924
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3312_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
188320999
188390524
69526
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187656507
187917489
260983
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4155_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
184234958
184270717
35760
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4177_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
184267517
184364009
96493
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4278_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
186399233
186470475
71243
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4533_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185669668
185726099
56432
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5244_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
187092006
187229815
137810
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5314_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185983971
186089700
105730
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5413_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
184165218
184203006
37789
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6396_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
183834114
184174463
340350
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8540_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185983971
186089700
105730
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8555_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
185983971
186089700
105730
GRCh38
Deletion
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)
184323845
184454719
130875
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1342302
Autism
183981070
184140724
159655
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU074503
Autism
186816080
186990816
174737
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case511-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
186019397
186143777
124381
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13554.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
186587028
187577028
990001
GRCh38
Duplication
No
griswold_12_ASD_discovery_cases-case7678
NA
NA
ASD/autism
NA
NA
184171287
185864107
1692821
GRCh38
Duplication
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-196-03
N/A
F
ASD
Juvenile rheumatoid arthritis
183274601
186048600
2774000
GRCh38
Duplication
Yes
guo_20_DD_discovery_cases-case16
15 yrs.
F
Developmental delay, autistic features, and seizures
Birth/neonatal history: postterm pregnancy (delivery at 42+0 weeks gestation). Developmental milestones: mild motor delay (walking at 14 months); evaluated to have gross and fine motor delay at 9 years of age. Behavioral/psychiatric evaluation: autistic features (problems with social interaction). Epilepsy/seizures: seizures (attacks with remoteness, staring, eye-turning, and leg cramps at 7 years of age with one episode of defecation; daytime urinary incontinence suspected to be part of epilepsy; some attacks with only remoteness, staring, and urinary incontinence; later suspicion of psychogenic non-epileptoc seizures with attacks consisting mostly of abdominal pain and headaches). Family history: patient was from Denmark and had a brother with learning disability who did not have this deletion.
Learning disability
182897754
183318033
420280
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001709
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
184482607
185243974
761368
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3046
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.
185756082
185769921
13840
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case13554.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
186590338
187503768
913431
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0639
65 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
184830819
184884225
53407
GRCh38
Deletion
N/A
kushima_22_BPD_discovery_cases-caseBD1709
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
182892999
182923653
30655
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0639
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
184830818
184884225
53408
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11595.p1
NA
M
ASD
NA
NA
186832957
186865450
32494
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0030-000
NA
M
ASD
RL/EL moderate delay, moderate repetitive behavior, mild dysmorphism
IQ/LOF 69
185983767
186096090
112324
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0306-004
NA
F
ASD
RL/EL mild delay, moderate unintelligibility, moderate repetitive behavior, severe dysmorphism, severe hypotonia
IQ/LOF 68
185983767
186080897
97131
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case113703
N/A
M
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
186291589
186408654
117066
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5413_3
NA
M
ASD
NA
NA
184165218
184203006
37789
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case18182_303
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
184153199
184199673
46475
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case98HI0380A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU011504; NDAR ID NDAR_INVHB385CJ2)
186622337
186638322
15986
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case103021L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
187939949
187948064
8116
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115751L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
188782721
188833212
50492
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case62224-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
187939949
187948064
8116
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case63586-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
187939949
187948064
8116
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68257
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
187664884
187803715
138832
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case78681
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
186565071
186659535
94465
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99006
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
188013560
188019828
6269
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-369
N/A
N/A
CBLH
Diagnosis of cerebellar hypoplasia (CBLH).
183113214
183173165
59952
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11028.p1
9
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 106
184234958
184293647
58690
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11097.p1
5.4
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 91; verbal IQ 99
184227181
184404331
177151
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11188.p1
15.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ 99
185800236
185809759
9524
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11234.p1
10.1
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
184234958
184294878
59921
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11235.p1
6.8
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 97; verbal IQ, 105
186142067
186165963
23897
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11275.p1
14.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
186819761
186875226
55466
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11371.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 84; verbal IQ 75
184381629
184400238
18610
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11447.p1
6.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 82
184234958
184299179
64222
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
184234958
184270717
35760
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11546.p1
11.7
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 123; verbal IQ, 100
183932675
183936256
3582
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11638.p1
12.5
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 76; verbal IQ, 30
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11641.p1
8.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 82
185488232
185546142
57911
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11673.p1
6.3
M
Aspergers
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 92
187238749
187285501
46753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
187181963
187285501
103539
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
185040304
185287989
247686
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11879.p1
5.3
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 89; verbal IQ, 69
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11883.p1
10.3
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
183932675
183937882
5208
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
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
185983971
186106868
122898
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
184499552
184542156
42605
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
184381629
184397751
16123
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12440.p1
7.3
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
184382045
184395550
13506
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12499.p1
6.9
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12548.p1
11.9
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 113; verbal IQ, 76
183932675
183937882
5208
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
184884928
184907018
22091
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12578.p1
5.4
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12637.p1
7.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 110; verbal IQ, 96
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12661.p1
8.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
184381629
184397751
16123
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12667.p1
6.3
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12676.p1
11.5
M
ASD
NA
Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12690.p1
11.6
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 112; verbal IQ, 103
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12780.p1
7.8
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
185802633
185813906
11274
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12843.p1
6.2
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 101; verbal IQ, 84
184381629
184397751
16123
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12878.p1
6.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 111; verbal IQ, 120
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12925.p1
13.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
183822083
183834114
12032
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
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12962.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
187238749
187285501
46753
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13035.p1
4.8
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
184381629
184395550
13922
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13171.p1
7.9
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 59; verbal IQ, 45
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
183932675
183937882
5208
GRCh38
Deletion
No
schmitz-abe_20_ASD_discovery_cases-caseAU-20201
N/A
M
ASD
Proband born to consanguineous parents of Middle Eastern descent from the HMCA cohort. Homozygous deletion segregated with ASD in this family.
183929724
183937724
8001
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR006-A3-8125-201
NA
ASD
NA
NA
183579766
185737767
2158002
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR006-A4-8125-202
NA
ASD
NA
NA
183932767
185737767
1805001
GRCh38
Duplication
Yes
xu_16_ASD/DD/ID_discovery_cases-case3
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
185828289
186218924
390636
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-controlB109643_1007853953
N/A
N/A
Control
No previous psychiatric history
187238749
187291851
53103
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
N/A
N/A
Control
No previous psychiatric history
187238749
187288694
49946
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB553894_1007850188
N/A
N/A
Control
No previous psychiatric history
187165017
187278950
113934
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB567421_1007848476
N/A
N/A
Control
No previous psychiatric history
186617108
187623560
1006453
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB579510_1007848497
N/A
N/A
Control
No previous psychiatric history
187915990
187978713
62724
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB596896_1007850211
N/A
N/A
Control
No previous psychiatric history
188161250
188477875
316626
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB611478_1007846394
N/A
N/A
Control
No previous psychiatric history
185669668
185726099
56432
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB655399_1007854025
N/A
N/A
Control
No previous psychiatric history
188320999
188390524
69526
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB711310_0067942611
N/A
N/A
Control
No previous psychiatric history
188320999
188380788
59790
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB717789_1007873953
N/A
N/A
Control
No previous psychiatric history
187238749
187285501
46753
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB748453_0067942589
N/A
N/A
Control
No previous psychiatric history
185661852
185726099
64248
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB754625_1007874648
N/A
N/A
Control
No previous psychiatric history
186833156
186904682
71527
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
N/A
N/A
Control
No previous psychiatric history
184153199
184199673
46475
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
N/A
N/A
Control
No previous psychiatric history
187238749
187285501
46753
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB921922_1007844480
N/A
N/A
Control
No previous psychiatric history
187181963
187285501
103539
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900180_900180
N/A
N/A
Control
No previous psychiatric history
187238749
187288694
49946
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900543_900543
N/A
N/A
Control
No previous psychiatric history
186292187
186408417
116231
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900808_900808
N/A
N/A
Control
No previous psychiatric history
185667108
185726830
59723
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
N/A
N/A
Control
No previous psychiatric history
187238749
187288694
49946
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900914_900914
N/A
N/A
Control
No previous psychiatric history
188319695
188380788
61094
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900929_900929
N/A
N/A
Control
No previous psychiatric history
184153199
184199673
46475
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
N/A
N/A
Control
No previous psychiatric history
187238749
187285501
46753
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901126_901126
N/A
N/A
Control
No previous psychiatric history
187238749
187285501
46753
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902521_902521
N/A
N/A
Control
No previous psychiatric history
185667108
185726830
59723
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902698_902698
N/A
N/A
Control
No previous psychiatric history
184153199
184199673
46475
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
N/A
N/A
Control
No previous psychiatric history
187238749
187285501
46753
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902956_902956
N/A
N/A
Control
No previous psychiatric history
187238749
187285501
46753
GRCh38
Deletion
No
gregory_09_ASD_discovery_controls-control2
NA
Control
NA
NA
1917500
NCBI36
Duplication
No
kanduri_15_ASD_discovery_controls-control_split839
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
185478036
185547462
69427
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control12749.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
185804913
185814042
9130
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11595.s1
NA
F
Control
NA
NA
186832957
186865450
32494
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27934
Control
185139314
185182802
43489
Unknown
Deletion
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
184381629
184395550
13922
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11234.s1
7.5
F
Control (matched sibling)
NA
NA
184379532
184400238
20707
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11235.s1
4.8
M
Control (matched sibling)
NA
NA
186142067
186165963
23897
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11241.s1
11.9
M
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11447.s1
8.4
F
Control (matched sibling)
NA
NA
184234958
184294878
59921
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11505.s1
9.9
F
Control (matched sibling)
NA
NA
184381629
184397751
16123
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11540.s1
14.7
F
Control (matched sibling)
NA
NA
184234958
184270717
35760
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11568.s1
16.7
F
Control (matched sibling)
NA
NA
185512526
185546142
33617
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11638.s1
14.4
M
Control (matched sibling)
NA
NA
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11642.s1
7.6
F
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
187238749
187285501
46753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11718.s1
23.6
F
Control (matched sibling)
NA
NA
187466794
187468337
1544
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11855.s1
15.9
F
Control (matched sibling)
NA
NA
185040304
185287989
247686
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11897.s1
8
M
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11905.s1
8.6
F
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
184382045
184397751
15707
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11947.s1
14.5
M
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
185499205
185546142
46938
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
185983971
186100416
116446
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11984.s1
7.7
F
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
184379532
184400238
20707
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12255.s1
14.6
M
Control (matched sibling)
NA
NA
187181963
187288694
106732
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
184499552
184542156
42605
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12297.s1
11.9
M
Control (matched sibling)
NA
NA
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12499.s1
9.4
M
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12548.s1
10.2
F
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12572.s1
6.6
F
Control (matched sibling)
NA
NA
184891355
184907018
15664
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12578.s1
8.8
F
Control (matched sibling)
NA
NA
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12667.s1
19.3
M
Control (matched sibling)
NA
NA
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12749.s1
4.3
F
Control (matched sibling)
NA
NA
185802633
185813906
11274
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12962.s1
8.3
F
Control (matched sibling)
NA
NA
187238749
187285501
46753
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13039.s1
4.5
M
Control (matched sibling)
NA
NA
184884928
184907018
22091
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13171.s1
11.3
F
Control (matched sibling)
NA
NA
183822083
183834114
12032
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13193.s1
11.3
M
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
183932675
183937882
5208
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al_shehhi_18_ASD/DD/ID_discovery_cases-case10
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
FSIP2,FSIP2-AS1
bacchelli_20_ASD_discovery_cases-caseAB137
qPCR
Maternal
Simplex
ZNF804A
chung_11_ASD_discovery_cases-proband
Maternal
Simplex
NA
LINC01473
engchuan_15_ASD_discovery_cases-case13082_963
Unknown
RNU6-989P
engchuan_15_ASD_discovery_cases-case14266_3890
Unknown
RN7SL267P,RPL31P15,RNU6-1122P,KRT8P10,LIN28AP1,DNAJC10,DUSP19,NUP35,FRZB,NCKAP1,PDE1A
engchuan_15_ASD_discovery_cases-case14271_3940
Unknown
engchuan_15_ASD_discovery_cases-case18182_303
Unknown
engchuan_15_ASD_discovery_cases-case20096_1419001
Unknown
engchuan_15_ASD_discovery_cases-case20110_1510001
Unknown
RNU6-989P
engchuan_15_ASD_discovery_cases-case20136_1236021
Unknown
RPL23AP35,MED28P3
engchuan_15_ASD_discovery_cases-case20143_1506001
Unknown
RNU6-989P
engchuan_15_ASD_discovery_cases-case20152_1637001
Unknown
RNU6-989P
engchuan_15_ASD_discovery_cases-case3127_4
Unknown
engchuan_15_ASD_discovery_cases-case3202_4
Unknown
engchuan_15_ASD_discovery_cases-case3312_3
Unknown
LINC01090,GULP1
engchuan_15_ASD_discovery_cases-case3451_3
Unknown
LINC01090,ST13P2
engchuan_15_ASD_discovery_cases-case4155_1
Unknown
engchuan_15_ASD_discovery_cases-case4177_1
Unknown
engchuan_15_ASD_discovery_cases-case4278_1
Unknown
engchuan_15_ASD_discovery_cases-case4533_100
Unknown
engchuan_15_ASD_discovery_cases-case5244_3
Unknown
RN7SKP42
engchuan_15_ASD_discovery_cases-case5314_3
Unknown
LINC01473
engchuan_15_ASD_discovery_cases-case5413_3
Unknown
engchuan_15_ASD_discovery_cases-case6396_3
Unknown
engchuan_15_ASD_discovery_cases-case8540_201
Unknown
LINC01473
engchuan_15_ASD_discovery_cases-case8555_201
Unknown
LINC01473
engchuan_15_ASD_discovery_cases-case8636_201
Unknown
MIR548AE1
gai_11_ASD_discovery_cases-AU1342302
Inherited
0 genes
gai_11_ASD_replication_cases-AU074503
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case511-3
Unknown
Unknown
Unknown
LINC01473
girirajan_13a_ASD_discovery_cases-13554.p1
Unknown
Simplex
Unknown
RN7SKP42,RNU6-989P,GAPDHP59,FAM171B,ZSWIM2,CALCRL,TFPI,ITGAV
griswold_12_ASD_discovery_cases-case7678
qPCR
Paternal
Multiplex
Segregated
MIR548AE1,RPL23AP33,FSIP2,FSIP2-AS1,ZNF804A
guo_18_ASD/DD/ID_discovery_cases-caseBK-196-03
aCGH, Sanger sequencing
Maternal
Simplex
Unknown
CACYBPP2,MIR548AE1,RPL23AP33,RPL21P32,FSIP2,FSIP2-AS1,LINC01473,ZNF804A
guo_20_DD_discovery_cases-case16
De novo
KRT8P10,LIN28AP1,DUSP19,NUP35,NCKAP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001709
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPL23AP33,ZNF804A
kanduri_15_ASD_discovery_cases-case3046
De novo
Unknown
Unknown
ZNF804A (intronic)
krumm_15_ASD_discovery_cases-case13554.p1
1M-Duov3
Paternal
Simplex
Segregated
RN7SKP42,RNU6-989P,GAPDHP59,FAM171B,ZSWIM2,CALCRL,TFPI,ITGAV
kushima_18_SCZ_discovery_cases-caseSCZ0639
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
ZNF804A
kushima_22_BPD_discovery_cases-caseBD1709
qRT-PCR
Unknown
NCKAP1
kushima_22_SCZ_discovery_cases-caseSCZ0639
qRT-PCR
Unknown
ZNF804A
levy_11_ASD_discovery_cases-11595.p1
Paternal
Simplex
Not segregated
ZSWIM2
marshall_08_ASD_discovery_cases-NA0030-000
qPCR, qmPCR
Maternal
Simplex
NA
LINC01473
marshall_08_ASD_discovery_cases-SK0306-004
qPCR, qmPCR
De novo
Simplex
NA
LINC01473
mosca_16_DCD_discovery_cases-case113703
Unknown
Unknown
Unknown
MED28P3
pinto_10_ASD_discovery_cases-case5413_3
Agilent1M
maternal
NA
NA
pinto_14_ASD_discovery_cases2-case18182_303
qPCR
Maternal
Simplex
CNV also present in affected sib
poultney_13_ASD_discovery_cases-case98HI0380A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ITGAV
prasad_12_ASD_discovery_cases-case103021L
Unknown
Unknown
Unknown
CALCRL
prasad_12_ASD_discovery_cases-case115751L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case62224-L
Unknown
Unknown
Unknown
CALCRL
prasad_12_ASD_discovery_cases-case63586-L
Unknown
Unknown
Unknown
CALCRL
prasad_12_ASD_discovery_cases-case68257
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case78681
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case99006
Unknown
Unknown
Unknown
CALCRL
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-369
qPCR
Paternal
Unknown
Unknown
NUP35
sanders_11_ASD_discovery_cases-11028.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11097.p1
Maternal
Simplex (trio)
NA
MIR548AE1
sanders_11_ASD_discovery_cases-11188.p1
Paternal
Simplex (trio)
NA
FSIP2
sanders_11_ASD_discovery_cases-11234.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11235.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11275.p1
Unknown
Simplex (quad-proband matched)
Segregated
ZSWIM2
sanders_11_ASD_discovery_cases-11371.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11447.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11546.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11638.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11641.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11673.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-989P
sanders_11_ASD_discovery_cases-11845.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-989P
sanders_11_ASD_discovery_cases-11855.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11879.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11883.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11947.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11982.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01473
sanders_11_ASD_discovery_cases-12003.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12026.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12106.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12261.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12315.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12335.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12379.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12424.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12440.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12499.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12548.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12572.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPL23AP33,ZNF804A
sanders_11_ASD_discovery_cases-12578.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12637.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12661.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12667.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12676.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12690.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12780.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12787.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FSIP2
sanders_11_ASD_discovery_cases-12843.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12878.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12925.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12956.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12962.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-989P
sanders_11_ASD_discovery_cases-13035.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13065.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13171.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
schmitz-abe_20_ASD_discovery_cases-caseAU-20201
qPCR
Both parents
Simplex
Segregated
szatmari_07_ASD_discovery_cases-NAAR006-A3-8125-201
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
CACYBPP2,MIR548AE1,RPL23AP33,ZNF804A
szatmari_07_ASD_discovery_cases-NAAR006-A4-8125-202
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
MIR548AE1,RPL23AP33,ZNF804A
xu_16_ASD/DD/ID_discovery_cases-case3
Unknown
RPL21P32,FSIP2,LINC01473
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB109643_1007853953
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlB553894_1007850188
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlB567421_1007848476
Unknown
RN7SKP42,RNU6-989P,GAPDHP59,FAM171B,ZSWIM2,CALCRL,TFPI,ITGAV
engchuan_15_ASD_discovery_controls-controlB579510_1007848497
Unknown
LINC01090
engchuan_15_ASD_discovery_controls-controlB596896_1007850211
Unknown
RNA5SP114,MIR561,LINC01090,GULP1
engchuan_15_ASD_discovery_controls-controlB611478_1007846394
Unknown
engchuan_15_ASD_discovery_controls-controlB655399_1007854025
Unknown
LINC01090,GULP1
engchuan_15_ASD_discovery_controls-controlB711310_0067942611
Unknown
LINC01090,GULP1
engchuan_15_ASD_discovery_controls-controlB717789_1007873953
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlB748453_0067942589
Unknown
engchuan_15_ASD_discovery_controls-controlB754625_1007874648
Unknown
ZSWIM2
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
Unknown
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlB921922_1007844480
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlHABC_900180_900180
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlHABC_900543_900543
Unknown
MED28P3
engchuan_15_ASD_discovery_controls-controlHABC_900808_900808
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlHABC_900914_900914
Unknown
LINC01090,GULP1
engchuan_15_ASD_discovery_controls-controlHABC_900929_900929
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901083_901083
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlHABC_901126_901126
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlHABC_902521_902521
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902698_902698
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902886_902886
Unknown
RNU6-989P
engchuan_15_ASD_discovery_controls-controlHABC_902956_902956
Unknown
RNU6-989P
gregory_09_ASD_discovery_controls-control2
Unknown
NA
NA
kanduri_15_ASD_discovery_controls-control_split839
Unknown
ZNF804A (intronic)
krumm_15_ASD_discovery_controls-control12749.s1
Illumina 1MDuo
Maternal
FSIP2
levy_11_ASD_discovery_controls-11595.s1
Paternal
Simplex
NA
ZSWIM2
nord_11_ASD_discovery_controls-04C27934
ZNF804A
sanders_11_ASD_discovery_controls-11098.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11234.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11235.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11241.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11393.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11447.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11505.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11540.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11568.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11638.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11642.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11673.s1
Maternal
Simplex (quad)
NA
RNU6-989P
sanders_11_ASD_discovery_controls-11718.s1
Both parents
Simplex (quad)
NA
TFPI
sanders_11_ASD_discovery_controls-11855.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11897.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11905.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11947.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11948.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11982.s1
Maternal
Simplex (quad)
NA
LINC01473
sanders_11_ASD_discovery_controls-11984.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12106.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12184.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12250.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12255.s1
Paternal
Simplex (quad)
NA
RNU6-989P
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12297.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12499.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12548.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12572.s1
Paternal
Simplex (quad)
NA
RPL23AP33,ZNF804A
sanders_11_ASD_discovery_controls-12578.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12667.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12749.s1
Maternal
Simplex (quad)
NA
FSIP2
sanders_11_ASD_discovery_controls-12962.s1
Paternal
Simplex (quad)
NA
RNU6-989P
sanders_11_ASD_discovery_controls-13039.s1
Paternal
Simplex (quad)
NA
RPL23AP33,ZNF804A
sanders_11_ASD_discovery_controls-13171.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13193.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13251.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13266.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available