2q14.3CNV Type: Deletion-Duplication
Largest CNV size: 393740 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.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
High resolution analysis of rare copy number variants in patients with autism spectrum disorder from Taiwan.
Duplication
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
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
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Autism spectrum disorder and intellectual disability in an inherited 2q14.3 micro-deletion involving CNTNAP5
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
aleo_20_ASD/DD/ID_discovery_cases
4-year-old male with a maternally-inherited deletion affecting the CNTNAP5 gene evaluated at the Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (Milan,Italy)
1
Case diagnosed with autism spectrum disorder (evaluation with ADOS) and developmental delay (evaluation with Griffiths-III Mental Development Scale) and presented with intellectual disability
4 years
Male
143510
1
0
1
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
1038000
0
1
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
32752
1
0
1
chen_17_ASD_discovery_cases
Patients recruited from the Children's Mental Health Center, National Taiwan University Hospital, Taipei, Taiwan and Department of Psychiatry, Chang-Gung Memorial Hospital, Kuei-Shan, Taiwan.
335
All cases met the clinical diagnosis of autistic disorder as defined by DSM-IV; diagnosis was confirmed by interviewing parents using the Chinese version of ADI-R, and all cases received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. Intelligence was measured using the Wechsler Primary and Preschool Scale of Intelligence-Revised (WPPSI-R), the Wechsler Intelligence Scale for Children-3rd Edition (WISC-III), or the Wechsler Adult Intelligence Scale (WAIS). Autistic-like social deficits were assessed using the Social Responsiveness Scale (SRS); symptoms of inattention, hyperactivity, and oppositional behavior were assessed using the Swanson, Nolan and Pelham Quest
Mean age, 9.4 4.0 years
89.25% Male
1433000
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
239232
2
3
5
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
281536
4
0
4
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
945000
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
476535
0
1
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
7046004
2
2
4
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
530212
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
532785
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
900000
0
2
2
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
125890571
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
23678
5
1
6
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
135171
48
5
53
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
1207824
1
2
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
1043067
0
1
1
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
12000
0
1
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
86414
1
1
2
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
32752
2
0
2
chen_17_ASD_discovery_controls1
Control subjects chosen from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Subjects received physical check-up and questionnaire screening to ensure that they did not have any abnormal physical condition and mental illness
Mean age, 68.1 10.1 years
48.03% 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
511863
3
3
6
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
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
481292
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
478938
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
46950
1
0
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
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)
23678
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.
259493
32
5
37
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
1207824
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
aleo_20_ASD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 Human CGH 8x60K
ADM-2, Diploid Peak Centralization
Agilent Feature Extraction and Cytogenomics v.4.0.3.12
None
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
None
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chen_17_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
RT-qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chen_17_ASD_discovery_controls1
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
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)
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
aleo_20_ASD/DD/ID_discovery_cases-case1
4 yrs.
M
ASD, developmental delay, and intellectual disability
Birth/neonatal history: delivery by caesarean section at term; birth weight 3.490 kg (50th-75th %ile), length 49 cm (25th %ile), and head circumference 35.5 cm (75th-90th %ile); septum pellucidum cyst detected on cranial ultrasound; slow growth and gastroesophageal reflux during infancy. Developmental milestones: developmental delay (general developmental quotient below 50 on Griffiths-III Mental Development Scale); speech delay (vocabulary limited to several individual words). Behavioral/psychiatric evaluation: diagnosis of ASD (ADOS). Brain imaging: septum pellucidum cyst confirmed by brain MRI. Additional medical history: imflammatory rectal polyp with widespread erosions detected by colonoscopy and removed at 2 years of age. Dysmorphic features: slightly deep set eyes, long eyelashes, downslanted palpebral fissures, saddle nose, short philtrum, arched upper lip. Growth parameters: weight 16.4 kg (50th %ile), height 95 cm (3rd-10th %ile), and head circumference 50 cm (10th-25th %ile) at age of 4 years. Family history: second son of healthy, non-consanguineous parents; family history positive for intellectual disability and ASD in a maternal uncle and a maternal aunt.
Intellectual disability
124157821
124301330
143510
GRCh38
Deletion
No
bartnik_12_EP_discovery_cases-case18
NA
F
Epilepsy
Age of onset of epilepsy: 8 months. Seizure types/epilepsy syndrome: West syndrome/juvenile myoclonic epilepsy (JME). Parental phenotype: normal.
Normal IQ
124273207
125310833
1037627
GRCh38
Duplication
No
brandler_18_ASD_replication_cases-caseSSC07441
N/A
M
ASD
Case from SSC_phase2 cohort
127518452
127551204
32753
GRCh38
Deletion
No
chen_17_ASD_discovery_cases-caseU-985
N/A
M
ASD
Case met the clinical diagnosis of autistic disorder as defined by DSM-IV, which was confirmed by interviewing parents using the Chinese version of ADI-R; case also received further clincial evaluation according to DSM-5 diagnostic criteria for ASD. ADI-R evaluation results: Qualitative abnormalities in reciprocal social interaction, current score 7 (past score 19); Qualitative abnormalities in verbal and nonverbal communication, current score 5 (past score 13); Qualitative abnormalities in nonverbal communication, current score 1 (past score 7); Restricted, repetitive, and stereotyped patterns of behaviour, current score 4 (past score 7); Abnormality of development evident at or before 36 months, past score 3. Behavioral/psychiatric evaluation: Social Responsiveness Scale (SRS) score 74; Swanson, Nolan and Pelham Questionnaire (SNAP-IV) score 16. Epilepsy: no history of epilepsy.
Performance IQ 118, Verbal IQ 107, Full-scale IQ 112
124775229
126207881
1432653
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14045_780
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
125430872
125562017
131146
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14258_3810
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
123421929
123606132
184204
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3139_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
126051358
126290590
239233
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4460_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
122273363
122332582
59220
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8463_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
126134763
126172874
38112
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU015203
Autism
122431303
122712838
281536
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU015204
Autism
122431303
122712838
281536
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU030103
Autism
123468570
123639885
171316
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU030104
Autism
123482987
123639885
156899
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13601.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
127665956
128605956
940001
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseY82
4 yrs. 9 mos.
M
ASD and intellectual disability
Intellectual disability
124129418
124605952
476535
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001641
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
125574480
126753377
1178898
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001929
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
121824798
128870804
7046007
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002511
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
122324343
128371704
6047362
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005110
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
123969752
124253670
283919
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13601.p1
N/A
F
ASD
ASD proband from SSC quad family 13601. SRS score of 85.
Full-scale IQ (FSIQ) score of 78.
127657402
128187614
530213
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case13601.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
127654829
128187614
532786
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown136
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
124301271
125195035
893765
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown137
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
124865323
124937806
72484
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0057-000
NA
M
ASD
NA
NA
125023025
125416764
393740
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case111520L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
124812715
124830494
17780
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case129914
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
124820246
124830494
10249
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case140059L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
124806817
124830494
23678
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60916L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
127568906
127575919
7014
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64249L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
128017398
128027005
9608
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case81155
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
127106913
127120070
13158
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11006.p1
7.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11046.p1
6.6
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
122294199
122298912
4714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
125060105
125119181
59077
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11131.p1
7.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 75; verbal IQ 96
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11144.p1
10.9
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 127; verbal IQ, 99
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11190.p1
5.1
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11274.p1
11.6
F
ASD
NA
Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ, 107
128263394
128273922
10529
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
125583919
125592184
8266
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11294.p1
6.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11391.p1
15.2
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 116; verbal IQ, 113
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
126659336
126663355
4020
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
126659336
126663355
4020
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
124342347
124355398
13052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11530.p1
8.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 88
123160360
123170289
9930
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
126659336
126662042
2707
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11653.p1
4.5
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11659.p1
6.4
F
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11685.p1
5.3
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 96; verbal IQ, 104
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11691.p1
14.7
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
126689277
126694643
5367
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11722.p1
11.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11831.p1
10.5
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 110
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11888.p1
4
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
126659336
126665430
6095
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11977.p1
10.2
M
ASD
NA
Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
126659336
126662042
2707
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
126659336
126662042
2707
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12056.p1
11
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 92; verbal IQ, 124
123057993
123132869
74877
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12083.p1
7.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
128881387
128889014
7628
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
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12149.p1
5.3
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 103
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12243.p1
12
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 107
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12313.p1
11.8
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12323.p1
10.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
126659336
126662042
2707
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12600.p1
7.9
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12735.p1
10.7
M
ASD
NA
Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
124342347
124355398
13052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12743.p1
10.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12805.p1
8.5
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
128249799
128250758
960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12836.p1
6.8
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 121; verbal IQ, 129
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12938.p1
15.3
M
Autism
NA
Full-scale IQ, 29; non-verbal IQ, 36; verbal IQ, 21
123349780
123484951
135172
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13169.p1
13.4
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
124355398
124371726
16329
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13169.p1
13.4
M
Autism
NA
Full-scale IQ, 45; non-verbal IQ, 62; verbal IQ, 37
128881387
128887747
6361
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
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13193.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
123412019
123448834
36816
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
128881387
128887747
6361
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case75
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
124775229
125983052
1207824
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case76
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
124775229
125983052
1207824
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case77
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
128739960
129408471
668512
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0119-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
124270879
125313945
1043067
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU074903
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
127566593
127578336
11744
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10212
N/A
M
Control
Control
127094121
127180534
86414
GRCh38
Duplication
No
bacchelli_20_ASD_discovery_controls-control20097
N/A
M
Control
Control
127094121
127108118
13998
GRCh38
Deletion
No
brandler_18_ASD_replication_controls-controlSSC07451
N/A
F
control
Control from SSC_phase2 cohort
127518452
127551204
32753
GRCh38
Deletion
No
brandler_18_ASD_replication_controls-controlSSC11751
N/A
F
control
Control from SSC_phase2 cohort
127524992
127525523
532
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036025203_
N/A
N/A
Control
No previous psychiatric history
125946318
126040101
93784
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB138586_1007853956
N/A
N/A
Control
No previous psychiatric history
125009445
125119181
109737
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB322838_1007872284
N/A
N/A
Control
No previous psychiatric history
121858350
122370213
511864
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB724913_1007872636
N/A
N/A
Control
No previous psychiatric history
123137816
123239999
102184
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB828452_1007853713
N/A
N/A
Control
No previous psychiatric history
123057993
123126820
68828
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
N/A
N/A
Control
No previous psychiatric history
122695611
122817349
121739
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13601.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13601. SRS score of 40.
127706322
128187614
481293
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11879.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
127820392
127839737
19346
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13601.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
127708676
128187614
478939
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12674.s1
NA
F
Control
NA
NA
123417084
123464033
46950
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11144.s1
14
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11277.s1
7.2
F
Control (matched sibling)
NA
NA
125583919
125592184
8266
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11321.s1
15.2
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11472.s1
10.6
F
Control (matched sibling)
NA
NA
126659336
126663355
4020
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11530.s1
9.4
F
Control (matched sibling)
NA
NA
123160360
123170289
9930
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11567.s1
7.7
M
Control (matched sibling)
NA
NA
124882712
124886702
3991
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11601.s1
9.3
F
Control (matched sibling)
NA
NA
126695188
126698093
2906
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11831.s1
7.5
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11879.s1
8.1
M
Control (matched sibling)
NA
NA
127818350
127835074
16725
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11888.s1
9.6
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11990.s1
13.4
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11998.s1
6.8
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12032.s1
7.2
F
Control (matched sibling)
NA
NA
126659336
126662042
2707
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12150.s1
10.3
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12257.s1
4.6
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
123971434
124007098
35665
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
127346138
127354487
8350
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12299.s1
9.7
F
Control (matched sibling)
NA
NA
126691413
126692543
1131
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12340.s1
10.3
F
Control (matched sibling)
NA
NA
124882712
124886702
3991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12340.s1
10.3
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12360.s1
7.9
F
Control (matched sibling)
NA
NA
124882712
124886702
3991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12596.s1
6.3
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12605.s1
13.3
M
Control (matched sibling)
NA
NA
128263394
128273922
10529
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
123421929
123459188
37260
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12735.s1
9.1
M
Control (matched sibling)
NA
NA
124342347
124355398
13052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12743.s1
12
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12799.s1
9
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12853.s1
8
M
Control (matched sibling)
NA
NA
123907500
123952857
45358
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12853.s1
8
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12916.s1
12.3
M
Control (matched sibling)
NA
NA
126895500
126909827
14328
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12924.s1
7.9
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12955.s1
9.5
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12977.s1
5.3
M
Control (matched sibling)
NA
NA
128589242
128848735
259494
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13016.s1
9.5
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13063.s1
4
F
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
128881387
128887747
6361
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
aleo_20_ASD/DD/ID_discovery_cases-case1
Maternal
CNTNAP5
bartnik_12_EP_discovery_cases-case18
Maternal
MTND5P22,RNA5SP102,RNU6-259P,CNTNAP5
brandler_18_ASD_replication_cases-caseSSC07441
No validation step reported
Paternal
IWS1,MYO7B
chen_17_ASD_discovery_cases-caseU-985
RT-qPCR
Maternal
RNA5SP102,RNU6-259P,LINC01941,LINC01889,CNTNAP5
engchuan_15_ASD_discovery_cases-case14045_780
Unknown
engchuan_15_ASD_discovery_cases-case14258_3810
Unknown
engchuan_15_ASD_discovery_cases-case3139_3
Unknown
LINC01941
engchuan_15_ASD_discovery_cases-case4460_1
Unknown
engchuan_15_ASD_discovery_cases-case8463_202
Unknown
gai_11_ASD_replication_cases-AU015203
Inherited
0 genes
gai_11_ASD_replication_cases-AU015204
Inherited
0 genes
gai_11_ASD_replication_cases-AU030103
Inherited
0 genes
gai_11_ASD_replication_cases-AU030104
Inherited
0 genes
girirajan_13a_ASD_discovery_cases-13601.p1
Unknown
Simplex
Unknown
SFT2D3,RNY4P7,RNU6-395P,DYNLT3P2,RNA5SP103,ISCA1P6,POLR2D,AMMECR1L,SAP130,HS6ST1,LIMS2,WDR33,UGGT1
han_22_ASD/DD/ID_discovery_cases-caseY82
Maternal
CNTNAP5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001641
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC01941,YWHAZP2,RNU6-675P,LINC01889,GYPC
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001929
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01826,RN7SKP102,MTND5P22,RNA5SP102,RNU6-259P,LINC01941,YWHAZP2,RNU6-675P,TEX51,RNU7-182P,NIFKP9,RNU6-1147P,PROC,MIR4783,RNU4-48P,SFT2D3,RNY4P7,RNU6-395P,DYNLT3P2,RNA5SP103,ISCA1P6,LINC01889,GYPC,BIN1,CYP27C1,MAP3K2,IWS1,MYO7B,GPR17,POLR2D,AMMECR1L,SAP130,HS6ST1,ERCC3,LIMS2,WDR33,UGGT1,CNTNAP5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002511
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01826,RN7SKP102,MTND5P22,RNA5SP102,RNU6-259P,LINC01941,YWHAZP2,RNU6-675P,TEX51,RNU7-182P,NIFKP9,RNU6-1147P,PROC,MIR4783,RNU4-48P,SFT2D3,RNY4P7,RNU6-395P,DYNLT3P2,LINC01889,GYPC,BIN1,CYP27C1,MAP3K2,IWS1,MYO7B,GPR17,POLR2D,AMMECR1L,SAP130,HS6ST1,ERCC3,LIMS2,WDR33,UGGT1,CNTNAP5
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005110
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CNTNAP5
krumm_13_ASD_discovery_cases-case13601.p1
Paternal
Simplex
Not segregated
SFT2D3,RNY4P7,RNU6-395P,POLR2D,AMMECR1L,SAP130,LIMS2,WDR33,UGGT1
krumm_15_ASD_discovery_cases-case13601.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
SFT2D3,RNY4P7,RNU6-395P,POLR2D,AMMECR1L,SAP130,LIMS2,WDR33,UGGT1
maini_18_ASD/DD/ID_discovery_cases-case_unknown136
Maternal
Unknown
Unknown
MTND5P22,RNA5SP102,RNU6-259P,CNTNAP5
maini_18_ASD/DD/ID_discovery_cases-case_unknown137
Paternal
Unknown
Unknown
RNA5SP102,CNTNAP5
marshall_08_ASD_discovery_cases-NA0057-000
qPCR, qmPCR
Unknown
NA
NA
prasad_12_ASD_discovery_cases-case111520L
qPCR
Maternal
Unknown
Unknown
CNTNAP5
prasad_12_ASD_discovery_cases-case129914
qPCR
Maternal
Unknown
Unknown
CNTNAP5
prasad_12_ASD_discovery_cases-case140059L
Unknown
Unknown
Unknown
CNTNAP5
prasad_12_ASD_discovery_cases-case60916L
Unknown
Unknown
Unknown
BIN1
prasad_12_ASD_discovery_cases-case64249L
Unknown
Unknown
Unknown
MYO7B
prasad_12_ASD_discovery_cases-case81155
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11006.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11046.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11079.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11129.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11131.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11131.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11144.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11190.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11274.p1
Paternal
Simplex (quad-proband matched)
Segregated
HS6ST1
sanders_11_ASD_discovery_cases-11277.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11294.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11391.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11446.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GYPC
sanders_11_ASD_discovery_cases-11472.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GYPC
sanders_11_ASD_discovery_cases-11475.p1
Paternal
Simplex (quad-proband matched)
Segregated
CNTNAP5
sanders_11_ASD_discovery_cases-11530.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11622.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GYPC
sanders_11_ASD_discovery_cases-11653.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11659.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11685.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11691.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GYPC
sanders_11_ASD_discovery_cases-11722.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11831.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11888.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11918.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GYPC
sanders_11_ASD_discovery_cases-11977.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GYPC
sanders_11_ASD_discovery_cases-11986.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GYPC
sanders_11_ASD_discovery_cases-11990.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12056.p1
Maternal
Simplex (quad-proband matched)
Segregated
LINC01826
sanders_11_ASD_discovery_cases-12083.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12106.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12149.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12150.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12243.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12313.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12323.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12330.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12558.p1
Maternal
Simplex (trio)
NA
GYPC
sanders_11_ASD_discovery_cases-12579.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12600.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12619.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12735.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNTNAP5
sanders_11_ASD_discovery_cases-12743.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12805.p1
Paternal
Simplex (trio)
NA
HS6ST1
sanders_11_ASD_discovery_cases-12836.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12938.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13016.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13169.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CNTNAP5
sanders_11_ASD_discovery_cases-13169.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13171.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13193.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13367.p1
Maternal
Simplex (trio)
NA
yin_16_ASD_discovery_cases-case75
Unknown
Unknown
Unknown
RNA5SP102,RNU6-259P,LINC01889,CNTNAP5
yin_16_ASD_discovery_cases-case76
Unknown
Unknown
Unknown
RNA5SP102,RNU6-259P,LINC01889,CNTNAP5
yin_16_ASD_discovery_cases-case77
Unknown
Unknown
Unknown
LINC01854
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0119-003
RT-qPCR or WGS
Unknown
MTND5P22,RNA5SP102,RNU6-259P,CNTNAP5
null
zhou_19_ASD_discovery_cases-caseAU074903
qPCR
Maternal
MYO7B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10212
Unknown
NIFKP9,BIN1
bacchelli_20_ASD_discovery_controls-control20097
Unknown
BIN1
brandler_18_ASD_replication_controls-controlSSC07451
No validation step reported
Paternal
IWS1,MYO7B
brandler_18_ASD_replication_controls-controlSSC11751
No validation step reported
Paternal
IWS1
engchuan_15_ASD_discovery_controls-control110036025203_
Unknown
engchuan_15_ASD_discovery_controls-controlB138586_1007853956
Unknown
engchuan_15_ASD_discovery_controls-controlB322838_1007872284
Unknown
engchuan_15_ASD_discovery_controls-controlB724913_1007872636
Unknown
engchuan_15_ASD_discovery_controls-controlB828452_1007853713
Unknown
LINC01826
engchuan_15_ASD_discovery_controls-controlHABC_900086_900086
Unknown
krumm_13_ASD_discovery_controls-control13601.s1
Paternal
Simplex
RNY4P7,RNU6-395P,POLR2D,AMMECR1L,SAP130,WDR33,UGGT1
krumm_15_ASD_discovery_controls-control11879.s1
Illumina 1MDuo
Paternal
krumm_15_ASD_discovery_controls-control13601.s1
1M-Duov3
Paternal
RNY4P7,RNU6-395P,POLR2D,AMMECR1L,SAP130,WDR33,UGGT1
levy_11_ASD_discovery_controls-12674.s1
De novo
Simplex
NA
sanders_11_ASD_discovery_controls-11144.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11277.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11321.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11472.s1
Both parents
Simplex (quad)
NA
GYPC
sanders_11_ASD_discovery_controls-11530.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11567.s1
Paternal
Simplex (quad)
NA
CNTNAP5
sanders_11_ASD_discovery_controls-11601.s1
Maternal
Simplex (quad)
NA
GYPC
sanders_11_ASD_discovery_controls-11831.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11879.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11888.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11990.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11998.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12032.s1
Both parents
Simplex (quad)
NA
GYPC
sanders_11_ASD_discovery_controls-12150.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12257.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Maternal
Simplex (quad)
NA
MAP3K2
sanders_11_ASD_discovery_controls-12299.s1
Paternal
Simplex (quad)
NA
GYPC
sanders_11_ASD_discovery_controls-12340.s1
Paternal
Simplex (quad)
NA
CNTNAP5
sanders_11_ASD_discovery_controls-12340.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12360.s1
Maternal
Simplex (quad)
NA
CNTNAP5
sanders_11_ASD_discovery_controls-12596.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12605.s1
Paternal
Simplex (quad)
NA
HS6ST1
sanders_11_ASD_discovery_controls-12674.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12735.s1
Paternal
Simplex (quad)
NA
CNTNAP5
sanders_11_ASD_discovery_controls-12743.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12799.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12851.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12853.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12853.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12916.s1
Unknown
Simplex (quad)
NA
TEX51
sanders_11_ASD_discovery_controls-12924.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12955.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12977.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13016.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13063.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13169.s1
Both parents
Simplex (quad)
NA
No Animal Model Data Available