8q22.3CNV Type: Deletion-Duplication
Largest CNV size: 780618 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
101981
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
7918
2
0
2
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
279000
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
155502
1
1
2
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
334000
1
1
2
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
100533
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
1395674
0
1
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
2419
1
0
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
19188
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
148431
1
1
2
kuroda_14_EP/ID_discovery_cases
8-year-old female patient referred for assessment due to developmental delay and epilepsy
1
Epilepsy, intellectual disability, and autistic behavior
8 yrs.
Female
1360000
1
0
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
19000
1
0
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
780618
0
1
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
692983
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
155503
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
774646
0
1
1
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
171319
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
87985
8
4
12
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
37392
1
1
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
19188
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
75064
1
1
2
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
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)
27915
0
1
1
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)
774646
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.
4118
4
4
8
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
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
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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)
kuroda_14_EP/ID_discovery_cases
Japan
aCGH
Agilent SurePrint G3 8x60K
Agilent Genomic Workbench
FISH
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
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
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)
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
akter_23_ASD/ADHD/DD/ID_discovery_cases-case87
2.67 yrs.
F
ASD and developmental delay
Autism, impaired language development, restlessness, hyperactivity, delayed ability to walk. Growth parameters: height 0.96 m, weight 14 kg, head circumference 48 cm. Family history: born to non-consanguineous parents.
103458677
103560657
101981
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU2075301
N/A
M
ASD
Case from MSSNG cohort
104254285
104262202
7918
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseAU3052301
N/A
M
ASD
Case from MSSNG cohort
103499729
103500049
321
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300106
N/A
M
Developmental delay/intellectual disability
103208318
103487425
279108
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6240_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
103370231
103525733
155503
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case9749_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101038284
101146790
108507
GRCh38
Duplication
No
fan_19_ASD_discovery_cases-caseASD024
22 mos.
M
ASD
CARS score 39.5 (severe severity)
103206128
103539910
333783
GRCh38
Duplication
No
fan_19_ASD_discovery_cases-caseASD380
3 yrs. 10 mos.
M
ASD
CARS score 37.5 (severe severity)
103996529
104115555
119027
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1276301
Autism
102809675
102910207
100533
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101962098
103357772
1395675
GRCh38
Duplication
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.
103054099
103056517
2419
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case12840.p1
N/A
M
ASD
ASD proband from SSC quad family 12840. SRS score of 90.
Full-scale IQ (FSIQ) score of 54.
100630326
100649514
19189
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case12840.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
100630326
100649514
19189
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13741.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
102212775
102361206
148432
GRCh38
Duplication
Yes
kuroda_14_EP/ID_discovery_cases-case1
8 yrs.
F
Epilepsy, ID, and autistic behavior
Referred for assessment at age of 8 years for developmental delay and epilepsy. Birth/neonatal history: delivered at 39 weeks 4 days gestational age after uneventful pregnancy; birth weight of 2702 g (-1.3 SD), length of 47.5 cm (-1.2 SD), and OFC of 33.5 cm (0.0 SD). Developmental milestones: started controlling her head at 5 months, sitting at 7 months, crawling at 12 months, walked alone at 24 months; first words at age of 3 years 10 months; spoke two word sentences at age of 8 years. Behavioral/psychiatric evaluation: autistic behavior; spoke stereotyped two-word sentences. Epilepsy/seizures: developed left-sided tonic clonic seizures for 30 minutes associated with fever at age of 10 months; repeated febrile convulsive status epilepticus on four occasions and started with antiepileptic drug at 2 years; severe epileptic seizures that were difficult to control with antiepileptic drugs, valproic acid, and phenobarbital; developed status epilepticus twice and had complex partial seizures with loss of consciousness, incontinence, and ocular displacement with over 10 times per day after administration of antiepileptic drugs; no status epilepticus, but did have complex partial seizures with impaired consciousness and ocular displacement with about five times per day after administration of clobazam. EEG: spike and wave complex in the right frontal lobe. generalized short burst of spike and wave. Brain imaging: sclerosis of right hippocampus and slight atrophy of right cerebral hemisphere detected on brain MRI. Dysmorphic features: mild dysmorphic features; sparse and wide eyebrows, telecanthus, slightly flat nasal tip, thick vermillion of the lips. Growth parameters: height of 124.8 cm (-0.7 SD), weight of 24.35 kg (-0.8 SD), and OFC of 51.6 cm (+0.5 SD) at age of 8 years. Family history: second child of unrelated and healthy parents.
Intellectual disability (IQ of 37 at age of 7 years)
102053838
103418207
1364370
GRCh38
Deletion
Yes
lesca_12_EP_discovery_cases-caseED31
NA
M
Epilepsy
Phenotype: s-CSWSS. Seizure Characteristics: Nocturnal. Autistic features: No. ADHD features: No. Other features: Cortical and subcortical cerebral atrophy, subtle periventricular changes.
Initial cognitive development: Delayed. Cognitive regression: No.
101837131
101855983
18853
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0210-004
NA
M
ASD
NA
NA
103085168
103865786
780619
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case13741.p1
NA
M
ASD/Autism
No additional clinical info available.
Low IQ. Non verbal IQ, 54
101719251
102412234
692984
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6240_4
NA
M
Autism
Language delay, macrocephaly, automutilations, minor dysmorphic facial features (low ears flat nose and nasal bridge high forehead), normal neurological exam; brain MRI: white mader abnormalities; chromosome 11q deletion syndrome (Jacobsen syndrome)
Mild MR
103370231
103525733
155503
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case47376
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
104181930
104956575
774646
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-418
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
102172566
102343884
171319
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11086.p1
7.4
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
102041871
102044289
2419
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11106.p1
6.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 51
101684122
101684661
540
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11242.p1
5.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
101684122
101684661
540
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11530.p1
8.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 88
101684122
101684661
540
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
100974636
100982186
7551
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11731.p1
9.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
102041871
102044289
2419
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11995.p1
5.4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
100662204
100679462
17259
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12070.p1
14.4
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
101958245
101960388
2144
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12070.p1
14.4
M
ASD
NA
Full-scale IQ, 77; non-verbal IQ, 77; verbal IQ, 82
101684122
101684661
540
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12363.p1
14.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
102041871
102044289
2419
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
102385125
102391621
6497
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12758.p1
11.3
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 79; verbal IQ, 70
103990767
104078752
87986
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-controlB624090_1007853967
N/A
N/A
Control
No previous psychiatric history
100879676
100917068
37393
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900863_900863
N/A
N/A
Control
No previous psychiatric history
101850891
101881398
30508
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control12840.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12840. SRS score of 39.
100630326
100649514
19189
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control12840.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
100630326
100649514
19189
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13130.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
102285126
102360190
75065
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control05C43720
N/A
M
Control
NIMH Control (NIMH ID 70856)
103040835
103068749
27915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
101684122
101684661
540
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
101684122
101684661
540
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
101684122
101684661
540
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11445.s1
9.5
F
Control (matched sibling)
NA
NA
104700837
104704955
4119
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11509.s1
20.3
M
Control (matched sibling)
NA
NA
101684122
101684661
540
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
101684122
101684661
540
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
102041871
102044289
2419
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12494.s1
11
F
Control (matched sibling)
NA
NA
102042355
102044289
1935
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case87
Unknown
PTMAP15,RIMS2
brandler_18_ASD_replication_cases-caseAU2075301
No validation step reported
Maternal
RIMS2
brandler_18_ASD_replication_cases-caseAU3052301
No validation step reported
Maternal
digregorio_17_DD/ID_discovery_cases-DECIPHER_300106
Paternal
CTHRC1,RNU6-1011P,FZD6,SLC25A32,BAALC,BAALC-AS1,DCAF13
engchuan_15_ASD_discovery_cases-case6240_4
Unknown
CTHRC1,RNU6-1011P,SLC25A32,DCAF13,RIMS2
engchuan_15_ASD_discovery_cases-case9749_201
Unknown
RN7SKP249,FLJ42969
fan_19_ASD_discovery_cases-caseASD024
Unknown
Unknown
Unknown
CTHRC1,RNU6-1011P,FZD6,SLC25A32,BAALC,BAALC-AS1,DCAF13,RIMS2
fan_19_ASD_discovery_cases-caseASD380
Unknown
Unknown
Unknown
RIMS2
gai_11_ASD_discovery_cases-AU1276301
Inherited
NCALD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR5680,SUMO2P19,RNU6ATAC8P,HSPE1P14,RPS12P15,RNU6-1224P,ODF1,POU5F1P2,KLF10,ADI1P2,RPL5P24,NPM1P52,MTND1P5,MTCO1P4,MTCO2P4,LINC01181,MIR3151,UBR5-AS1,GASAL1,BAALC-AS2,FZD6,RRM2B,UBR5,AZIN1,AZIN1-AS1,ATP6V1C1,BAALC,BAALC-AS1,NCALD
kanduri_15_ASD_discovery_cases-case3046
Maternal
Unknown
Unknown
NCALD (intronic)
krumm_13_ASD_discovery_cases-case12840.p1
Paternal
Simplex
Not segregated
SNX31
krumm_15_ASD_discovery_cases-case12840.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SNX31
krumm_15_ASD_discovery_cases-case13741.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SUMO2P19,UBR5-AS1,RRM2B,UBR5
kuroda_14_EP/ID_discovery_cases-case1
FISH
De novo
Simplex
Segregated
MIR5680,SUMO2P19,RNU6ATAC8P,HSPE1P14,RPS12P15,RNU6-1224P,ODF1,POU5F1P2,KLF10,ADI1P2,RPL5P24,NPM1P52,MTND1P5,MTCO1P4,MTCO2P4,LINC01181,MIR3151,CTHRC1,RNU6-1011P,UBR5-AS1,GASAL1,BAALC-AS2,FZD6,SLC25A32,RRM2B,UBR5,AZIN1,AZIN1-AS1,ATP6V1C1,BAALC,BAALC-AS1,DCAF13,NCALD
lesca_12_EP_discovery_cases-caseED31
qPCR
Paternal
Unknown
Unknown
NCALD
marshall_08_ASD_discovery_cases-MM0210-004
qPCR, qmPCR
Unknown
NA
NA
MTND1P5,MTCO1P4,MTCO2P4,LINC01181,MIR3151,CTHRC1,RNU6-1011P,BAALC-AS2,FZD6,SLC25A32,BAALC,BAALC-AS1,DCAF13,RIMS2
o'roak_12_ASD_discovery_cases-case13741.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
MIR5680,SUMO2P19,UBR5-AS1,RRM2B,UBR5,NCALD
pinto_10_ASD_discovery_cases-case6240_4
qPCR
paternal
Simplex
NA
CTHRC1,RNU6-1011P,SLC25A32,DCAF13,RIMS2
prasad_12_ASD_discovery_cases-case47376
Unknown
Unknown
Unknown
FZD6,MIR3151,C8orf56,DCAF13,BAALC,SLC25A32,LOC100499183,CTHRC1,RIMS2
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-418
qPCR
Maternal
Unknown
Unknown
SUMO2P19,UBR5-AS1,RRM2B,UBR5
sanders_11_ASD_discovery_cases-11086.p1
Maternal
Simplex (quad-proband matched)
Segregated
NCALD
sanders_11_ASD_discovery_cases-11106.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11242.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11530.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11549.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11731.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NCALD
sanders_11_ASD_discovery_cases-11995.p1
Paternal
Simplex (trio)
NA
SNX31
sanders_11_ASD_discovery_cases-12070.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
NCALD
sanders_11_ASD_discovery_cases-12070.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12363.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NCALD
sanders_11_ASD_discovery_cases-12505.p1
Paternal
Simplex (trio)
NA
UBR5
sanders_11_ASD_discovery_cases-12758.p1
Unknown
Simplex (quad-proband matched)
Segregated
RIMS2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB624090_1007853967
Unknown
RPS26P6,YWHAZ
engchuan_15_ASD_discovery_controls-controlHABC_900863_900863
Unknown
NCALD
krumm_13_ASD_discovery_controls-control12840.s1
Paternal
Simplex
SNX31
krumm_15_ASD_discovery_controls-control12840.s1
1M-Duov3
Paternal
SNX31
krumm_15_ASD_discovery_controls-control13130.s1
1M-Duov3
Paternal
UBR5
poultney_13_ASD_discovery_controls-control05C43720
Unknown
ATP6V1C1
sanders_11_ASD_discovery_controls-11172.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11274.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11318.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11445.s1
Maternal
Simplex (quad)
NA
ZFPM2
sanders_11_ASD_discovery_controls-11509.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11654.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
NCALD
sanders_11_ASD_discovery_controls-12494.s1
Maternal
Simplex (quad)
NA
NCALD
No Animal Model Data Available