5q21.1CNV Type: Deletion-Duplication
Largest CNV size: 286036 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al_shehhi_18_ASD/DD/ID_discovery_cases
Cases with 2p16.3 deletions involving the NRXN1 gene identified from January 2014 to December 2015 by database review within national genetic referral centre, with additional cases whose deletion was not reported in the national genetic service identified through the Trinity College Dublin (TCD) Autism and Neurodevelopmental Disorders research group
34
94% of cases presented with speech delay, 83% presented with global developmental delay, 80% presented with intellectual disability, 60% presented with ASD, 17% presented with seizures, and 15% presented with congenital heart defect
Range, 1 month-24 years
61.76% Male
165942
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
473119
35
5
40
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
252801
0
1
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
378527
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1382000
0
1
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
74442
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
66931
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
46853
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
500000
1
0
1
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
140540
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
63638
0
1
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
74398
4
0
4
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
121304
1
1
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
89943
3
2
5
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
254129
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
286036
18
7
25
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
260418
1
0
1
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
504255
3
0
3
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
813472
28
15
43
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
408732
1
0
1
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
146330
2
1
3
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
46853
0
2
2
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
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)
89943
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.
286036
10
1
11
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
260418
N/A
N/A
N/A
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
504255
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al_shehhi_18_ASD/DD/ID_discovery_cases
Ireland
aCGH
Platform N/A
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
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
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
qPCR
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
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
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
al_shehhi_18_ASD/DD/ID_discovery_cases-case27
20 yrs.
M
ASD and developmental delay
ASD, speech and language delay
No learning disability
101494971
101660912
165942
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1260_10
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13017_223
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101432247
101702340
270094
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13079_933
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100079605
100333952
254348
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13088_1053
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100333952
100443855
109904
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13100_1173
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99989106
100110409
121304
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14000_30
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100401592
100448412
46821
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14008_170
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99581904
100055023
473120
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14121_2140
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98482226
98587996
105771
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14144_2420
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101770294
102030712
260419
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14325_4390
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98228092
98338982
110891
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20012_1062002
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99241429
99297701
56273
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20164_1684001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101717041
101760311
43271
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case21014_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99989106
100110409
121304
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3031_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100401592
100500696
99105
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3424_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3425_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98032866
98077883
45018
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3440_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97978817
98142851
164035
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3441_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102139802
102186972
47171
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3448_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99989106
100110409
121304
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3570_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4208_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4218_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4240_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4260_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100406660
100500696
94037
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4298_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100511208
100580029
68822
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4421_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
103152867
103183264
30398
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4422_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5055_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99989106
100110409
121304
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5204_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100292247
100366644
74398
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5205_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101423577
101486554
62978
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5295_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98043480
98111891
68412
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5335_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98553032
98653345
100314
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5358_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100197945
100278897
80953
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8616_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
102139802
102186972
47171
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8626_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101099725
101149712
49988
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8638_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
101720181
101760311
40131
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8662_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99482349
47909
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8663_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99482349
47909
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8701_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
99434441
99482349
47909
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8709_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
100079605
100333952
254348
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1342302
Autism
99162459
99415259
252801
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU073703
Autism
100110254
100488780
378527
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-13982.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
99966397
101346397
1380001
GRCh38
Duplication
No
girirajan_13b_ASD_discovery_cases-32505103937
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
99432659
99507101
74443
GRCh38
Deletion
No
kanduri_15_ASD_discovery_cases-case1881
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
98779530
98809033
29504
Unknown
Deletion
No
kanduri_15_ASD_discovery_cases-case1918
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
101019270
101086200
66931
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case13982.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
100856102
100902955
46854
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU073703
N/A
M
ASD
100726296
101255296
529001
GRCh38
Deletion
No
mosca_16_DCD_discovery_cases-case115103
N/A
M
DCD/RD
Ancestry: European. Family history: maternal diagnosis unaffected; paternal diagnosis unaffected.
101589864
101730403
140540
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-212-1
ASD
101468794
101532431
63638
Unknown
Duplication
No
pinto_10_ASD_discovery_cases-case1260_10
NA
M
ASD
NA
NA
99434441
99473329
38889
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5204_5
NA
M
ASD
NA
NA
100292247
100366644
74398
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5205_3
NA
M
ASD
NA
NA
101423577
101486554
62978
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5295_4
NA
M
ASD
NA
NA
98043480
98111891
68412
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case20164_1684001
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
101675611
101760311
84701
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case9770_201
N/A
M
ASD
Clinical profile: N/A.
Cognitive profile: N/A.
99989106
100110409
121304
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case168866
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
101040843
101119148
78306
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case44307
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
99655429
99730524
75096
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case53696
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
99553235
99643177
89943
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case58629
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
100788525
100836252
47728
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case62345L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
102399765
102420580
20816
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-108
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: possible diagnosis. Seizures: no.
Developmental delay: yes. Intellectual disability: N/A.
100346258
100600386
254129
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11014.p1
9.6
M
Autism
NA
Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
99434441
99473329
38889
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11032.p1
5.8
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 84; verbal IQ, 103
102184208
102222379
38172
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11365.p1
14.7
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
99434441
99467058
32618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11474.p1
14.3
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
101099725
101149712
49988
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11619.p1
5.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 105; verbal IQ, 108
103035933
103053288
17356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11620.p1
16.5
M
ASD
NA
Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
99357685
99445399
87715
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11700.p1
6.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
101626822
101696604
69783
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11825.p1
6.6
M
Autism
NA
Full-scale IQ, 131; non-verbal IQ, 135; verbal IQ, 115
98598184
98599173
990
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11851.p1
8.8
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 92; verbal IQ, 121
103035933
103053288
17356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
102198077
102233841
35765
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12015.p1
7.2
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
98598184
98599173
990
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12046.p1
12.6
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
101720181
101760311
40131
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
101675611
101693040
17430
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
101717041
101760311
43271
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
101675611
101693040
17430
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12150.p1
8.7
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
101720181
101760311
40131
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12198.p1
8.1
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
103035933
103053288
17356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12440.p1
7.3
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
99434441
99467058
32618
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12469.p1
10.7
M
Aspergers
NA
Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151
102139802
102186972
47171
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
100722372
100727335
4964
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12606.p1
11.8
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 59; verbal IQ, 62
103035933
103053288
17356
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12621.p1
5.8
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 120; verbal IQ, 96
98185740
98469632
283893
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12759.p1
8.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
101628488
101770294
141807
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12809.p1
5.6
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
101859080
101916574
57495
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13053.p1
4.6
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
99434441
99473329
38889
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-14144-2420
N/A
M
ASD
N/A
N/A
101770294
102030712
260419
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case224
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
99310576
99814830
504255
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case225
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
100255138
100513939
258802
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case226
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
100255138
100513939
258802
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-control110036010999_
N/A
N/A
Control
No previous psychiatric history
99983462
100110409
126948
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036016616_
N/A
N/A
Control
No previous psychiatric history
99989106
100110409
121304
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036018174_
N/A
N/A
Control
No previous psychiatric history
100197945
100278897
80953
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036018406_
N/A
N/A
Control
No previous psychiatric history
102297906
102409315
111410
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023109_
N/A
N/A
Control
No previous psychiatric history
99893594
99989599
96006
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036025062_
N/A
N/A
Control
No previous psychiatric history
99419020
99473329
54310
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB136270_1007872262
N/A
N/A
Control
No previous psychiatric history
97963110
98018968
55859
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB236372_0067942637
N/A
N/A
Control
No previous psychiatric history
102139802
102210935
71134
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB266791_1007871681
N/A
N/A
Control
No previous psychiatric history
101069098
101882570
813473
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB269978_1007875858
N/A
N/A
Control
No previous psychiatric history
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB312215_1007873706
N/A
N/A
Control
No previous psychiatric history
100406660
100500696
94037
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB343432_1007844537
N/A
N/A
Control
No previous psychiatric history
102147279
102206080
58802
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB400963_1007854338
N/A
N/A
Control
No previous psychiatric history
101856989
101912568
55580
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB452714_1007872596
N/A
N/A
Control
No previous psychiatric history
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB529567_1007875209
N/A
N/A
Control
No previous psychiatric history
100401592
100500696
99105
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB728427_1007854311
N/A
N/A
Control
No previous psychiatric history
97997738
98202133
204396
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB742453_1007844402
N/A
N/A
Control
No previous psychiatric history
99490514
99721923
231410
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB759051_1007875185
N/A
N/A
Control
No previous psychiatric history
100110335
100198392
88058
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB828423_1007875117
N/A
N/A
Control
No previous psychiatric history
101859080
101912568
53489
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB926850_1007876051
N/A
N/A
Control
No previous psychiatric history
100401592
100522313
120722
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB993989_1007854998
N/A
N/A
Control
No previous psychiatric history
99983462
100110409
126948
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900028_900028
N/A
N/A
Control
No previous psychiatric history
100406660
100506295
99636
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900212_900212
N/A
N/A
Control
No previous psychiatric history
101439903
101508337
68435
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900256_900256
N/A
N/A
Control
No previous psychiatric history
100197945
100278897
80953
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
N/A
N/A
Control
No previous psychiatric history
102139802
102186972
47171
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
N/A
N/A
Control
No previous psychiatric history
99765932
99798856
32925
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900619_900619
N/A
N/A
Control
No previous psychiatric history
101263523
101296324
32802
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900677_900677
N/A
N/A
Control
No previous psychiatric history
102139802
102186972
47171
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
N/A
N/A
Control
No previous psychiatric history
100406660
100506295
99636
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
N/A
N/A
Control
No previous psychiatric history
99434441
99467058
32618
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901037_901037
N/A
N/A
Control
No previous psychiatric history
100406660
100506295
99636
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901086_901086
N/A
N/A
Control
No previous psychiatric history
99989106
100110409
121304
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901103_901103
N/A
N/A
Control
No previous psychiatric history
103044553
103134183
89631
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901117_901117
N/A
N/A
Control
No previous psychiatric history
100270947
100385249
114303
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902516_902516
N/A
N/A
Control
No previous psychiatric history
102139802
102186972
47171
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902568_902568
N/A
N/A
Control
No previous psychiatric history
100406660
100506295
99636
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902576_902576
N/A
N/A
Control
No previous psychiatric history
99989106
100110409
121304
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902592_902592
N/A
N/A
Control
No previous psychiatric history
100406660
100506295
99636
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902625_902625
N/A
N/A
Control
No previous psychiatric history
99434441
99467058
32618
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
N/A
N/A
Control
No previous psychiatric history
99268304
99458086
189783
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902810_902810
N/A
N/A
Control
No previous psychiatric history
103156266
103278405
122140
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
N/A
N/A
Control
No previous psychiatric history
99434441
99473329
38889
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902823_902823
N/A
N/A
Control
No previous psychiatric history
99899029
99989599
90571
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-55105104410
N/A
N/A
Control
Ethnicity: Caucasian
N/A
100138912
100547644
408733
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1591
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
98779530
98809033
29504
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1761
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
99518198
99664527
146330
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split341
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
101019270
101086200
66931
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control13773.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
102373351
102399742
26392
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13982.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
100856102
100902955
46854
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_controls-11201.s1
10.6
M
Control (matched sibling)
NA
NA
99408302
99473329
65028
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11365.s1
13.1
F
Control (matched sibling)
NA
NA
99434441
99507387
72947
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
97997738
98043480
45743
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11620.s1
15.1
F
Control (matched sibling)
NA
NA
99357685
99445399
87715
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
101626822
101702340
75519
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12150.s1
10.3
F
Control (matched sibling)
NA
NA
101725219
101760311
35093
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
103035933
103053288
17356
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12469.s1
8.7
F
Control (matched sibling)
NA
NA
102139802
102186972
47171
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12534.s1
4.7
F
Control (matched sibling)
NA
NA
100722372
100727335
4964
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12621.s1
8.8
M
Control (matched sibling)
NA
NA
98185740
98469632
283893
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
99434441
99473329
38889
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al_shehhi_18_ASD/DD/ID_discovery_cases-case27
Validation methodology N/A (report states "All results were validated in an accredited diagnostic laboratory.")
Maternal
RN7SL802P
engchuan_15_ASD_discovery_cases-case1260_10
Unknown
engchuan_15_ASD_discovery_cases-case13017_223
Unknown
RN7SL802P
engchuan_15_ASD_discovery_cases-case13079_933
Unknown
RNU6-1119P
engchuan_15_ASD_discovery_cases-case13088_1053
Unknown
engchuan_15_ASD_discovery_cases-case13100_1173
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_cases-case14000_30
Unknown
engchuan_15_ASD_discovery_cases-case14008_170
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_cases-case14121_2140
Unknown
CTBP2P4
engchuan_15_ASD_discovery_cases-case14144_2420
Unknown
OR7H2P
engchuan_15_ASD_discovery_cases-case14325_4390
Unknown
engchuan_15_ASD_discovery_cases-case20012_1062002
Unknown
engchuan_15_ASD_discovery_cases-case20164_1684001
Unknown
engchuan_15_ASD_discovery_cases-case21014_1
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_cases-case3031_4
Unknown
engchuan_15_ASD_discovery_cases-case3424_3
Unknown
engchuan_15_ASD_discovery_cases-case3425_3
Unknown
engchuan_15_ASD_discovery_cases-case3440_3
Unknown
LINC01846
engchuan_15_ASD_discovery_cases-case3441_3
Unknown
engchuan_15_ASD_discovery_cases-case3448_3
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_cases-case3570_4
Unknown
engchuan_15_ASD_discovery_cases-case4208_1
Unknown
engchuan_15_ASD_discovery_cases-case4218_1
Unknown
engchuan_15_ASD_discovery_cases-case4240_1
Unknown
engchuan_15_ASD_discovery_cases-case4260_1
Unknown
engchuan_15_ASD_discovery_cases-case4298_1
Unknown
FAM174A
engchuan_15_ASD_discovery_cases-case4421_1
Unknown
PPIP5K2
engchuan_15_ASD_discovery_cases-case4422_1
Unknown
engchuan_15_ASD_discovery_cases-case5055_3
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_cases-case5204_5
Unknown
engchuan_15_ASD_discovery_cases-case5205_3
Unknown
engchuan_15_ASD_discovery_cases-case5295_4
Unknown
LINC01846
engchuan_15_ASD_discovery_cases-case5335_3
Unknown
CTBP2P4
engchuan_15_ASD_discovery_cases-case5358_3
Unknown
engchuan_15_ASD_discovery_cases-case8616_201
Unknown
engchuan_15_ASD_discovery_cases-case8626_201
Unknown
engchuan_15_ASD_discovery_cases-case8638_201
Unknown
engchuan_15_ASD_discovery_cases-case8662_201
Unknown
engchuan_15_ASD_discovery_cases-case8663_201
Unknown
engchuan_15_ASD_discovery_cases-case8701_201
Unknown
engchuan_15_ASD_discovery_cases-case8709_201
Unknown
RNU6-1119P
gai_11_ASD_discovery_cases-AU1342302
Inherited
0 genes
gai_11_ASD_replication_cases-AU073703
Inherited
ST8SIA4
girirajan_13a_ASD_discovery_cases-13982.p1
Unknown
Simplex
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22,RNU6-1119P,RN7SKP62,MIR548P,FAM174A,ST8SIA4
girirajan_13b_ASD_discovery_cases-32505103937
Unknown
Unknown
Unknown
kanduri_15_ASD_discovery_cases-case1881
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, LOC100289230(dist=512817),LOC100133050(dist=906176)
kanduri_15_ASD_discovery_cases-case1918
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, ST8SIA4(dist=780281),SLCO4C1(dist=483492)
krumm_15_ASD_discovery_cases-case13982.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ST8SIA4
leppa_16_ASD_discovery_cases-AU073703
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
RN7SKP62,MIR548P,ST8SIA4
mosca_16_DCD_discovery_cases-case115103
qPCR
De novo
Simplex
Segregated
nord_11_ASD_discovery_cases-212-1
Maternal
0 genes
pinto_10_ASD_discovery_cases-case1260_10
Illumina550
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5204_5
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5205_3
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5295_4
Agilent1M
paternal
NA
NA
LINC01846
pinto_14_ASD_discovery_cases2-case20164_1684001
qPCR
Maternal
Simplex
(no siblings)
pinto_14_ASD_discovery_cases2-case9770_201
qPCR
Maternal
Simplex
(not tested)
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
prasad_12_ASD_discovery_cases-case168866
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case44307
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case53696
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case58629
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case62345L
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR09-108
qPCR
Unknown
Unknown
Unknown
FAM174A
sanders_11_ASD_discovery_cases-11014.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11032.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11365.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11474.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11619.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11620.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11700.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11825.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11851.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12015.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12046.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12061.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12061.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12150.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12150.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12198.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12440.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12469.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12534.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12606.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12621.p1
Maternal
Simplex (quad-proband matched)
Not segregated
KRT8P32,MRPS35P2,MTCO2P24,MTCO1P24
sanders_11_ASD_discovery_cases-12759.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12809.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13053.p1
Paternal
Simplex (quad-proband matched)
Not segregated
walker_13_ASD_discovery_cases-case8-14144-2420
Unknown
Simplex
Unknown
OR7H2P
yin_16_ASD_discovery_cases-case224
Unknown
Unknown
Unknown
GUSBP8,LINC02113
yin_16_ASD_discovery_cases-case225
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case226
Unknown
Unknown
Unknown
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036010999_
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_controls-control110036016616_
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_controls-control110036018174_
Unknown
engchuan_15_ASD_discovery_controls-control110036018406_
Unknown
RN7SKP68,SLCO6A1
engchuan_15_ASD_discovery_controls-control110036023109_
Unknown
engchuan_15_ASD_discovery_controls-control110036025062_
Unknown
engchuan_15_ASD_discovery_controls-controlB136270_1007872262
Unknown
engchuan_15_ASD_discovery_controls-controlB236372_0067942637
Unknown
engchuan_15_ASD_discovery_controls-controlB266791_1007871681
Unknown
RN7SL802P,OR7H2P
engchuan_15_ASD_discovery_controls-controlB269978_1007875858
Unknown
engchuan_15_ASD_discovery_controls-controlB312215_1007873706
Unknown
engchuan_15_ASD_discovery_controls-controlB343432_1007844537
Unknown
engchuan_15_ASD_discovery_controls-controlB400963_1007854338
Unknown
engchuan_15_ASD_discovery_controls-controlB452714_1007872596
Unknown
engchuan_15_ASD_discovery_controls-controlB529567_1007875209
Unknown
engchuan_15_ASD_discovery_controls-controlB728427_1007854311
Unknown
LINC01846
engchuan_15_ASD_discovery_controls-controlB742453_1007844402
Unknown
GUSBP8,LINC02113
engchuan_15_ASD_discovery_controls-controlB759051_1007875185
Unknown
RNU6-1119P
engchuan_15_ASD_discovery_controls-controlB828423_1007875117
Unknown
engchuan_15_ASD_discovery_controls-controlB926850_1007876051
Unknown
engchuan_15_ASD_discovery_controls-controlB993989_1007854998
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_controls-controlHABC_900028_900028
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900212_900212
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900256_900256
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900444_900444
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900512_900512
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900619_900619
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900677_900677
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900698_900698
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901037_901037
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901086_901086
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_controls-controlHABC_901103_901103
Unknown
GIN1,PPIP5K2
engchuan_15_ASD_discovery_controls-controlHABC_901117_901117
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902516_902516
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902568_902568
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902576_902576
Unknown
EEF1A1P20,MTCYBP22,MTND6P22,MTND5P10,MTND4P35,MTND4LP5,MTND3P19,MTCO3P22,MTATP6P2,MTCO2P22,MTCO1P22
engchuan_15_ASD_discovery_controls-controlHABC_902592_902592
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902625_902625
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902667_902667
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902810_902810
Unknown
C5orf30,PPIP5K2
engchuan_15_ASD_discovery_controls-controlHABC_902816_902816
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902823_902823
Unknown
girirajan_13b_ASD_discovery_controls-55105104410
Unknown
RNU6-1119P,FAM174A
kanduri_15_ASD_discovery_controls-control_split1591
Unknown
Intergenic CNV: nearest genes, LOC100289230(dist=512817),LOC100133050(dist=906176)
kanduri_15_ASD_discovery_controls-control_split1761
Unknown
Intergenic CNV: nearest genes, LOC100289230(dist=1251485),LOC100133050(dist=50682)
kanduri_15_ASD_discovery_controls-control_split341
Unknown
Intergenic CNV: nearest genes, ST8SIA4(dist=780281),SLCO4C1(dist=483492)
krumm_15_ASD_discovery_controls-control13773.s1
Omni2.5-4v1
Paternal
SLCO6A1
krumm_15_ASD_discovery_controls-control13982.s1
Omni2.5-4v1
Paternal
ST8SIA4
sanders_11_ASD_discovery_controls-11201.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11365.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11471.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11620.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11700.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12150.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12198.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12469.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12534.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12621.s1
Maternal
Simplex (quad)
NA
KRT8P32,MRPS35P2,MTCO2P24,MTCO1P24
sanders_11_ASD_discovery_controls-12656.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available