14q31.1CNV Type: Deletion
Largest CNV size: 83976 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
Rare deletions at the neurexin 3 locus in 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.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum 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
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
47564
1
1
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
106000
1
0
1
egger_14_ASD_discovery_cases
ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
73
Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
N/A
80.82% Male
39879
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
290311
6
0
6
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
104831
2
0
2
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
29269
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
69176
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
158612
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
50036
2
0
2
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
41627
2
0
2
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
21498
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
289711
2
1
3
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
83976
7
0
7
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
336000
1
0
1
vaags_11_ASD_replication_cases_1
Replication cohort consisting of patients tested at Guy's Hospital, with samples collected by pediatricians & other health specialists, as well as genetics centers both in and outside the region
1368
ASD
NA
NA
336000
1
0
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
247000
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
292000
4
0
4
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
254463
3
0
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egger_14_ASD_discovery_controls
CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
2357
Control
N/A
N/A
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
296547
6
4
10
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
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)
289711
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.
310186
4
0
4
vaags_11_ASD_discovery_controls
Published data from 2,026 healthy individuals from CHOP, 2,493 controls genotyped at the University of Washington; microarray data from 10,603 population-based controls. 1,056 HapMap samples, 4,783 WTCCC controls, and 1,287 SAGE controls
15122
Control
NA
NA
115000
3
0
3
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
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
qPCR
egger_14_ASD_discovery_cases
68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
Array SNP
Affymetrix 6.0
Birdsuite, iPattern, Affymetrix Genotyping Console
None
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
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
aCGH (NimbleGen 135K array)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
qPCR
vaags_11_ASD_replication_cases_1
NA
aCGH
Agilent 44K
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
qPCR, FISH
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egger_14_ASD_discovery_controls
European
N/A
N/A
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, 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
vaags_11_ASD_discovery_controls
Predominantly European
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
cucinotta_23_ASD_discovery_cases-case24
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
78997455
79045018
47564
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case476
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
79639940
79647117
7178
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300039
7 yrs.
F
ASD and developmental delay
Global developmental delay, delayed speech and language development, poor social interactions, diagnosis of ASD at 3 years old (ADOS: language and communication: 7, reciprocal social interaction: 14, play: 4, stereotyped behaviors and restricted interests: 4).
78861769
78967412
105644
GRCh38
Deletion
Yes
egger_14_ASD_discovery_cases-caseA83
9 yrs. (born 2005)
M
ASD
Diagnosis: Asperger syndrome. Co-morbidities/additional features: none reported. Family history: none reported. CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
Normal IQ
79012021
79051899
39879
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14183_2990
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
81743886
81992128
248243
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20011_1048001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80627685
80853688
226004
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2230_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79021305
79053758
32454
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5454_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79658423
79948734
290312
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6362_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79000596
79042222
41627
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8048_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79016349
79139270
122922
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU022704
Autism
79536316
79641146
104831
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU022705
Autism
79538196
79641146
102951
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case667-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
83098226
83127495
29270
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13367.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
78969324
79038500
69177
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004028
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
79303314
79461926
158613
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13367.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
78968172
78988141
19970
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13900.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
80743074
80793110
50037
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case2230_1
NA
M
Autism
Language delay, no dysmorphic features, fifth finger clinodactyly, obesity, urethral obstruction surgically repaired, bilateral inguinal hernias, chronic ear infections, allergies, no epilepsy, normal brain CT scan
Moderate MR
79021305
79053758
32454
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case6362_3
NA
M
Autism
Language delay, normal physical exam, no epilepsy, normal brain MRI
Moderate MR
79000596
79042222
41627
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case17009_1
N/A
M
ASD
ASD (ASD on ADI-R, autism on ADOS), no language delay (first words 12 mo, first phrases 20 mo), verbal, no epilepsy. Family history: N/A.
No ID (PPVT-III VIQ 71, Raven's Matrices-colored PIQ 105)
79039200
79060697
21498
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case60539L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
81925087
81956625
31539
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case86474
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
82301941
82431283
129343
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case95458L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
79195282
79484992
289711
Unknown
Deletion
Yes
sanders_11_ASD_discovery_cases-11851.p1
8.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
80132171
80147874
15704
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
80132171
80147874
15704
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12100.p1
11.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 64; verbal IQ, 87
82594194
82607565
13372
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12596.p1
4.9
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
80207330
80291306
83977
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
80132171
80147874
15704
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13294.p1
5.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
80132171
80147874
15704
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
78968350
79047028
78679
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF2-003
3 yrs. 5 mos.
M
Autism
Diagnosis of autism based on ADI-R and ADOS-1. Language: Oral and Written Language Scales/OWLS, incomplete; Peabody Picture Vocabulary Test/PPVT-4, SS = 67 (<1%). Adaptive Behavior (measured by VABS-II): adaptive behavior composite (ABC) = 61 (<1%), communication (COM) = 63 (1%), daily living skills (DLS) = 60 (<1%), socialization (SOC) = 59 (<1%), and motor skills (MOT) = 72 (3%). Born at 31 weeks, asthma, juvenile arthritis. Family history: proband was one of three trizygotic triplets; sister with autism & nonabsent seizures (has NRXN3 deletion).
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
79658822
79950539
291718
GRCh38
Deletion
Yes
vaags_11_ASD_replication_cases_1-probandF3-003
13 yrs.
M
Autism
Diagnosis of autism based on ADI-R. Aggression, self harm, obsessive behavior, suicidal and homicidal thoughts, delusional and persecutory ideas, sleep issues, and obesity. Family history: father with broader autism phenotpye; brother with OCD and ADHD (lacks NRXN3 deletion).
WASI full-scale IQ (FSIQ): 71 (3rd %ile)
78967355
79303373
336019
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
79230031
79477167
247137
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1148-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: asthma; right side cranial hemmorage at birth
79657657
79949657
292001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case2-1148-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: asthma, multiple ear and respiratory infections, suspected cranial hemmorage
79659657
79949657
290001
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case7-0240-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
79394083
79651347
257265
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case7-0240-004
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
79394058
79651657
257600
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0122-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
78847152
79070853
223702
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0240-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
79394364
79646354
251991
GRCh38
Deletion
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0240-004
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
79391892
79646354
254463
GRCh38
Deletion
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
engchuan_15_ASD_discovery_controls-controlB215965_1007871668
N/A
N/A
Control
No previous psychiatric history
79948734
80245281
296548
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
N/A
N/A
Control
No previous psychiatric history
82014971
82166187
151217
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB477363_0067942596
N/A
N/A
Control
No previous psychiatric history
81923239
82217289
294051
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
N/A
N/A
Control
No previous psychiatric history
79575283
79625826
50544
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900106_900106
N/A
N/A
Control
No previous psychiatric history
80618785
80853688
234904
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900399_900399
N/A
N/A
Control
No previous psychiatric history
80538796
80576587
37792
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900641_900641
N/A
N/A
Control
No previous psychiatric history
81716086
81798024
81939
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900918_900918
N/A
N/A
Control
No previous psychiatric history
81865327
81984237
118911
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
N/A
N/A
Control
No previous psychiatric history
82056395
82136568
80174
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902723_902723
N/A
N/A
Control
No previous psychiatric history
79016349
79053758
37410
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12033.s1
12.2
M
Control (matched sibling)
NA
NA
80132171
80147874
15704
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
82635775
82642903
7129
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12501.s1
8.1
M
Control (matched sibling)
NA
NA
82200558
82510744
310187
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12524.s1
4.4
F
Control (matched sibling)
NA
NA
80132171
80147874
15704
GRCh38
Deletion
No
vaags_11_ASD_discovery_controls-control1
NA
F
Control
Control from Wellcome Trust Case Control Consortium (WTCCC)
NA
NA
31000
Unknown
Deletion
vaags_11_ASD_discovery_controls-control2
NA
F
Control
Control from Wellcome Trust Case Control Consortium (WTCCC)
NA
NA
115000
Unknown
Deletion
vaags_11_ASD_discovery_controls-control4
NA
NA
Control
Control from Shaikh et al. 2009 report
NA
NA
63000
Unknown
Deletion
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cucinotta_23_ASD_discovery_cases-case24
Paternal
NRXN3
cucinotta_23_ASD_discovery_cases-case476
Unknown
NRXN3
digregorio_17_DD/ID_discovery_cases-DECIPHER_300039
qPCR
Maternal
Simplex
Incomplete segregation (CNV present in unaffected mother and unaffected maternal uncle)
NRXN3
egger_14_ASD_discovery_cases-caseA83
Unknown
Unknown
NRXN3
engchuan_15_ASD_discovery_cases-case14183_2990
Unknown
RPL9P6,EIF3LP1
engchuan_15_ASD_discovery_cases-case20011_1048001
Unknown
CEP128
engchuan_15_ASD_discovery_cases-case2230_1
Unknown
NRXN3
engchuan_15_ASD_discovery_cases-case5454_3
Unknown
NRXN3
engchuan_15_ASD_discovery_cases-case6362_3
Unknown
NRXN3
engchuan_15_ASD_discovery_cases-case8048_202
Unknown
NRXN3
gai_11_ASD_replication_cases-AU022704
Inherited
0 genes
gai_11_ASD_replication_cases-AU022705
Inherited
0 genes
gazzellone_14_ASD_discovery_cases-case667-3
Unknown
Unknown
Unknown
girirajan_13a_ASD_discovery_cases-13367.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
NRXN3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004028
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
NRXN3
krumm_15_ASD_discovery_cases-case13367.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
NRXN3
krumm_15_ASD_discovery_cases-case13900.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
CEP128
pinto_10_ASD_discovery_cases-case2230_1
qPCR, Affy 6.0
paternal
NA
NA
NRXN3
pinto_10_ASD_discovery_cases-case6362_3
qPCR
paternal
Simplex
NA
NRXN3
pinto_14_ASD_discovery_cases2-case17009_1
qPCR
De novo
Simplex
(not tested)
NRXN3
prasad_12_ASD_discovery_cases-case60539L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case86474
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case95458L
qPCR
Paternal
Unknown
Unknown
NRXN3
sanders_11_ASD_discovery_cases-11851.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12031.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12100.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12596.p1
Unknown
Simplex (quad-proband matched)
Segregated
DIO2,DIO2-AS1
sanders_11_ASD_discovery_cases-12925.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13294.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13367.p1
Paternal
Simplex (trio)
NA
NRXN3
vaags_11_ASD_discovery_cases-probandF2-003
qPCR
Paternal
Multiplex
Segregated
NRXN3
vaags_11_ASD_replication_cases_1-probandF3-003
Possibly paternal
Paternal
Simplex
Segregated
NRXN3
vaags_11_ASD_replication_cases_2-probandF4-003
qPCR, FISH
De novo
Simplex
Likely segregated
NRXN3
yuen_17_ASD_discovery_cases-case2-1148-003
Agilent 1M
Paternal
Multiplex
Possibly segregated
NRXN3
yuen_17_ASD_discovery_cases-case2-1148-004
Affymetrix 6.0
Paternal
Multiplex
Possibly segregated
NRXN3
yuen_17_ASD_discovery_cases-case7-0240-003
Affymetrix CytoScan HD
Unknown
Multiplex
Unknown
NRXN3
yuen_17_ASD_discovery_cases-case7-0240-004
Affymetrix CytoScan HD
Unknown
Multiplex
Unknown
NRXN3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0122-003
RT-qPCR or WGS
Unknown
NRXN3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0240-003
RT-qPCR or WGS
Paternal
NRXN3
null
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case7-0240-004
RT-qPCR or WGS
Paternal
NRXN3
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB215965_1007871668
Unknown
DIO2,DIO2-AS1
engchuan_15_ASD_discovery_controls-controlB414618_1007854093
Unknown
engchuan_15_ASD_discovery_controls-controlB477363_0067942596
Unknown
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
Unknown
NRXN3
engchuan_15_ASD_discovery_controls-controlHABC_900106_900106
Unknown
CEP128
engchuan_15_ASD_discovery_controls-controlHABC_900399_900399
Unknown
CEP128
engchuan_15_ASD_discovery_controls-controlHABC_900641_900641
Unknown
RPL9P6,LINC02311
engchuan_15_ASD_discovery_controls-controlHABC_900918_900918
Unknown
EIF3LP1
engchuan_15_ASD_discovery_controls-controlHABC_902493_902493
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902723_902723
Unknown
NRXN3
sanders_11_ASD_discovery_controls-12033.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12337.s1
Maternal
Simplex (quad)
NA
LINC02301
sanders_11_ASD_discovery_controls-12501.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12524.s1
Paternal
Simplex (quad)
NA
vaags_11_ASD_discovery_controls-control1
NRXN3
vaags_11_ASD_discovery_controls-control2
NRXN3
vaags_11_ASD_discovery_controls-control4
NRXN3
No Animal Model Data Available