14q21.1CNV Type: Deletion-Duplication
Largest CNV size: 195519 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
45847
2
0
2
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
297716
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
183580
4
1
5
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
197644
1
1
2
hu_22_ASD_discovery_cases
Patients receiving a diagnosis of ASD in the Department of Child Health Care, Children's Hospital of Fudan University, that were included consecutively from January 2019 to December 2020.
573
Cases met criteria for autism spectrum disorder (ASD) using DSM-5 criteria.
Range, 16 mos.-12.8 yrs. (mean, 3.6 yrs)
80.1% Male
105961
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
2076573
5
0
5
leblond_12_ASD_replication_cases
Dataset featuring ASD patients from the Autism Genome Project carrying de novo SHANK2 deletions previously identified by Pinto et al. 2010. CNV validation information taken from Pinto report.
2
1 patient diagnosed with autism, 1 patient diagnosed with PDD-NOS.
NA
100% Male
58111
2
0
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
14329
2
0
2
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
154557
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
195519
7
3
10
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
46742
1
0
1
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
180000
1
0
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
318708
2
0
2
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
320884
4
1
5
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
296853
1
0
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)
14329
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.
251518
9
4
13
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
hu_22_ASD_discovery_cases
China
Targeted gene panel sequencing
Illumina HiSeq X10
CANOES, HMZDelFinder
PICNIC, AnnotSV
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
leblond_12_ASD_replication_cases
1 Canadian, 1 French
Solid phase hybridization
Illumina 1M SNP array
QuantiSNP, PennCNV
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
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
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
qPCR
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
alayadhi_16_ASD_discovery_cases-caseAUT3-1
N/A
M
Autism
CARS score of 33.0; Social Responsiveness Scale (SRS) score of 80; Sensory profile score of 133.
41146636
41192482
45847
GRCh38
Deletion
Yes
alayadhi_16_ASD_discovery_cases-caseAUT3-2
N/A
M
Autism
CARS score of 35.0; Social Responsiveness Scale (SRS) score of 78; Sensory profile score of 134.
41146636
41192482
45847
GRCh38
Deletion
Yes
al_shehhi_18_ASD/DD/ID_discovery_cases-case20
1 mo.
F
Epilepsy/seizures
Seizures, ventriculomegaly, contractures, low-set ears
No learning disability
40765387
41063102
297716
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1195_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37380537
37450566
70030
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14118_2100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40248639
40432219
183581
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3568_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39948661
40117105
168445
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4370_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40052953
40130819
77867
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6327_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41225810
41394225
168416
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case636-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
40258159
40310929
52771
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case638-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
41077316
41274962
197647
GRCh38
Deletion
No
hu_22_ASD_discovery_cases-case24
NA
F
ASD
Case met criteria for ASD using DSM-5.
39090288
39196248
105961
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001614
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38817817
40894390
2076574
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002371
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37367874
37465541
97668
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004456
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39745754
40264866
519113
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004944
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38232912
38458697
225786
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005115
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37646644
38725434
1078791
GRCh38
Deletion
Yes
leblond_12_ASD_replication_cases-Pintocase5237_3
NA
M
Autism
Diagnosis of autism based on ADI-R and ADOS. Language and communication evaluation: below average language (<1st %ile). Epilepsy/seizures: no history of epilepsy. Dysmorphic features: minor, including 5th finger clinodactyly and several curled toes.
Below average non-verbal IQ (<1st %ile)
41141021
41199131
58111
GRCh38
Homozygous deletion
No
prasad_12_ASD_discovery_cases-case54650
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
37318512
37332840
14329
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64377L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
37456691
37470885
14195
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1258-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: unknown. Intellectual disability: no.
39384546
39539102
154557
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11006.p1
7.3
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 125; verbal IQ, 99
37531976
37544844
12869
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11409.p1
4.1
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
41006107
41010212
4106
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11422.p1
6.1
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 96; verbal IQ, 106
40498558
40581407
82850
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11567.p1
9.4
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
37975588
37982771
7184
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
37531976
37544844
12869
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
38653171
38848690
195520
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12194.p1
5.7
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
38364776
38370585
5810
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12221.p1
4.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 99; verbal IQ, 76
38480227
38572088
91862
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12534.p1
7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 84
37531976
37544844
12869
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12785.p1
7.6
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 85; verbal IQ, 88
40017140
40038577
21438
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
41141436
41188177
46742
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN27
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
40247943
40427627
179685
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family5_Twin_1
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Concordant NDD diagnostic group
42502585
42821292
318708
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family5_Twin_2
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Discordant ASD/Concordant NDD diagnostic group
42502585
42821292
318708
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-controlB701762_1007873488
N/A
N/A
Control
No previous psychiatric history
39948661
40111331
162671
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB741318_1007851257
N/A
N/A
Control
No previous psychiatric history
38489763
38571362
81600
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB818952_1007874830
N/A
N/A
Control
No previous psychiatric history
38489763
38571362
81600
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901020_901020
N/A
N/A
Control
No previous psychiatric history
39809935
40130819
320885
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
N/A
N/A
Control
No previous psychiatric history
38489763
38572088
82326
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split146
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
42971788
43268640
296853
Unknown
Deletion
No
sanders_11_ASD_discovery_controls-11006.s1
5.5
M
Control (matched sibling)
NA
NA
40521213
40772731
251519
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
41134929
41141953
7025
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
41026338
41042916
16579
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11414.s1
14.8
F
Control (matched sibling)
NA
NA
40148961
40183726
34766
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11422.s1
8.5
F
Control (matched sibling)
NA
NA
40498558
40584704
86147
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12325.s1
16.3
F
Control (matched sibling)
NA
NA
39932062
39952052
19991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12426.s1
4.7
F
Control (matched sibling)
NA
NA
39513729
39631856
118128
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12426.s1
4.7
F
Control (matched sibling)
NA
NA
39721715
39748619
26905
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12451.s1
12.3
M
Control (matched sibling)
NA
NA
37531976
37544844
12869
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12510.s1
4.1
M
Control (matched sibling)
NA
NA
39360407
39391012
30606
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12534.s1
4.7
F
Control (matched sibling)
NA
NA
37531976
37544844
12869
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12691.s1
23.8
M
Control (matched sibling)
NA
NA
41391649
41401027
9379
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12937.s1
18.9
M
Control (matched sibling)
NA
NA
41141021
41299542
158522
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
alayadhi_16_ASD_discovery_cases-caseAUT3-1
qPCR
Paternal
Multiplex
alayadhi_16_ASD_discovery_cases-caseAUT3-2
qPCR
Paternal
Multiplex
al_shehhi_18_ASD/DD/ID_discovery_cases-case20
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
LINC02315
engchuan_15_ASD_discovery_cases-case1195_4
Unknown
RNU6-886P,MIPOL1
engchuan_15_ASD_discovery_cases-case14118_2100
Unknown
engchuan_15_ASD_discovery_cases-case3568_3
Unknown
engchuan_15_ASD_discovery_cases-case4370_1
Unknown
engchuan_15_ASD_discovery_cases-case6327_4
Unknown
gazzellone_14_ASD_discovery_cases-case636-3
Unknown
Unknown
Unknown
gazzellone_14_ASD_discovery_cases-case638-3
Unknown
Unknown
Unknown
hu_22_ASD_discovery_cases-case24
Unknown
TRAPPC6B,PPIAP4,RPL7AP2,PNN,SEC23A-AS1,GEMIN2,SEC23A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001614
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SEC23A-AS1,PNN,YTHDF2P1,PPIAP4,GEMIN2,TRAPPC6B,RPL7AP2,FBXO33,SEC23A,MIA2,LINC00639
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002371
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-886P,MIPOL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004456
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004944
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CLEC14A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005115
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1277P,SSTR1,CLEC14A,LINC00517,TTC6
leblond_12_ASD_replication_cases-Pintocase5237_3
Both parents
prasad_12_ASD_discovery_cases-case54650
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case64377L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1258-0
qPCR
De novo
Unknown
Unknown
FBXO33,MIA2
sanders_11_ASD_discovery_cases-11006.p1
Maternal
Simplex (quad-proband matched)
Segregated
MIPOL1
sanders_11_ASD_discovery_cases-11409.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11422.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11567.p1
Unknown
Simplex (quad-proband matched)
Segregated
TTC6
sanders_11_ASD_discovery_cases-11721.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIPOL1
sanders_11_ASD_discovery_cases-12158.p1
Paternal
Simplex (trio)
NA
KRT8P1,LINC00639
sanders_11_ASD_discovery_cases-12194.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12221.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12534.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIPOL1
sanders_11_ASD_discovery_cases-12785.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
soueid_16_ASD_discovery_cases-caseCLIN27
Maternal
Simplex
stamouli_18_ASD/NDD_discovery_cases-family5_Twin_1
Unknown
Multiplex
Segregated (CNV present in both affected twins)
stamouli_18_ASD/NDD_discovery_cases-family5_Twin_2
Unknown
Multiplex
Segregated (CNV present in both affected twins)
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB701762_1007873488
Unknown
engchuan_15_ASD_discovery_controls-controlB741318_1007851257
Unknown
engchuan_15_ASD_discovery_controls-controlB818952_1007874830
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901020_901020
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
Unknown
kanduri_15_ASD_discovery_controls-control_split146
Unknown
Intergenic CNV: nearest genes, LRFN5(dist=598036),FSCB(dist=1704714)
sanders_11_ASD_discovery_controls-11006.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11158.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11299.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11414.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11422.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12325.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12426.s1
qPCR
De Novo
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12426.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12451.s1
Paternal
Simplex (quad)
NA
MIPOL1
sanders_11_ASD_discovery_controls-12510.s1
Maternal
Simplex (quad)
NA
MIA2
sanders_11_ASD_discovery_controls-12534.s1
Maternal
Simplex (quad)
NA
MIPOL1
sanders_11_ASD_discovery_controls-12691.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12937.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available