8q24.13CNV Type: Deletion-Duplication
Largest CNV size: 875848 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
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-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype c...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to 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
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
112076
2
0
2
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
81278
3
0
3
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
875847
2
1
3
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
1211974
1
2
3
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
48992
1
2
3
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
22899
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
22899
4
0
4
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
800000
0
2
2
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
105296
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
57801
1
0
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
875848
2
0
2
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
6465
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
881531
4
1
5
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
110681
15
1
16
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
56389
2
1
3
zhou_19_ASD_discovery_cases
ASD probands from families recruited from training centers in Beijing and Tsingdao, China
539
Cases were diagnosed for ASD by ADI-R and ADOS
4.92 1.20 years
87.38% Male
17000
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
81278
1
0
1
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
44021
0
2
2
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
321686
0
2
2
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
22899
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
17534
4
0
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
290567
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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.
103962
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
6465
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)
881531
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.
110681
10
2
12
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
56389
0
0
0
zhou_19_ASD_discovery_controls
Samples from blood donors at donation stations in Beijing, China (note: CNVs identified in controls not reported in this study)
512
Controls were screened for ASD by AQ measurement (score < 32) and self-reported to be negative for personal or family history of neurological disorders or psychiatric illness related to ASD and adverse pregnancy history
29.77 9.12 years
76.17% Male
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
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)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
Long-range PCR, qPCR
zhou_19_ASD_discovery_cases
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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
zhou_19_ASD_discovery_controls
Han Chinese
Targeted exome sequencing
Roche NimbleGen SeqCap EZ Library, Illumina HiSeq 2500
XHMM v.1.0
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseE3F6Y_01
N/A
M
ASD
Case from REACH cohort
123360397
123365858
5462
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000443
N/A
M
ASD
Case from REACH cohort
123337072
123449148
112077
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-case2-0002-005
N/A
F
ASD
Case from MSSNG cohort
124726399
124726520
122
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC08826
N/A
M
ASD
Case from SSC_phase2 cohort
124726400
124726520
121
GRCh38
Deletion
No
brandler_18_ASD_replication_cases-caseSSC09542
N/A
M
ASD
Case from SSC_phase2 cohort
124613483
124694760
81278
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3317_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
122491365
122544261
52897
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5421_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
122501608
122557997
56390
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5428_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
123602127
124477973
875847
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
124125245
125337217
1211973
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
122751607
123361569
609963
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003973
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
124377953
124575712
197760
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1872
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.
123507509
123556500
48992
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case3020
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.
123507509
123537948
30440
Unknown
Duplication
No
kanduri_15_ASD_discovery_cases-case3087
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.
123522322
123570236
47915
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case11629.p1
N/A
M
ASD
ASD proband from SSC quad family 11629. SRS score of 90.
Full-scale IQ (FSIQ) score of 50.
123963277
123986176
22900
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11629.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
123963277
123986176
22900
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12782.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
123128280
123130333
2054
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12961.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
125020783
125021945
1163
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13102.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
124485830
124493959
8130
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1686301
N/A
M
ASD
121848761
122664761
816001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1686302
N/A
F
ASD
121848761
122664761
816001
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0194-003
NA
M
ASD
NA
NA
122457707
122563002
105296
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-201-1
ASD
123581464
123639264
57801
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5421_3
NA
M
ASD
NA
NA
122501608
122557997
56390
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5428_4
NA
M
ASD
NA
NA
123602127
124477973
875847
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI3730A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1333302; NDAR ID NDAR_INVXN619JT9)
124091421
124097885
6465
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case103818L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
123582967
123637084
54118
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115745L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
123582967
123637084
54118
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60539L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
124152165
124161478
9314
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case91549L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
124329662
124341025
11364
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case92173L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
124681029
125562559
881531
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
123976027
124010493
34467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11073.p1
9.7
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11086.p1
7.4
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
122047724
122049955
2232
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11629.p1
17.6
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 67; verbal IQ, 33
123883569
123994250
110682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11883.p1
10.3
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 92; verbal IQ, 70
124965250
124992715
27466
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12008.p1
7.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
125464874
125476008
11135
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12106.p1
9.3
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
123247191
123252687
5497
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12220.p1
14.4
F
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
123978521
123994250
15730
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12902.p1
14.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
124971271
124992715
21445
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13076.p1
6.7
M
ASD
NA
Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
124965250
124992715
27466
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
122047724
122065397
17674
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case3-0115-000
N/A
M
ASD
N/A
N/A
124476666
124495229
18564
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case3-0186-000
N/A
M
ASD
N/A
N/A
122501608
122557997
56390
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-3317-003
N/A
M
ASD
N/A
N/A
122491365
122544261
52897
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU027101
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
123798040
123815500
17461
GRCh38
Duplication
Yes
zhou_19_ASD_discovery_cases-caseAU036305
N/A
N/A
ASD
Diagnosis of ASD by ADI-R and ADOS.
123798040
123815500
17461
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_controls-controlSSC09545
N/A
M
control
Control from SSC_phase2 cohort
124613483
124694760
81278
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900925_900925
N/A
N/A
Control
No previous psychiatric history
122491365
122525908
34544
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902875_902875
N/A
N/A
Control
No previous psychiatric history
122513167
122557188
44022
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1307
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
125108977
125430662
321686
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split164
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
123507509
123538147
30639
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control11629.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11629. SRS score of 47.
123963277
123986176
22900
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control11629.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
123963277
123980811
17535
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11993.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
124091422
124097883
6462
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12695.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
124999403
125005705
6303
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12782.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
123128280
123130333
2054
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11579.s1
NA
M
Control
NA
NA
125054491
125345057
290567
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C28320
Control
125936884
126040845
103962
Unknown
Duplication
poultney_13_ASD_discovery_controls-control04C36026A
N/A
F
Control
NIMH Control (NIMH ID 68324)
124091421
124097885
6465
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
122047724
122049955
2232
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11158.s1
11.6
M
Control (matched sibling)
NA
NA
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11629.s1
11
F
Control (matched sibling)
NA
NA
123883569
123994250
110682
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12106.s1
10.9
F
Control (matched sibling)
NA
NA
123247191
123252687
5497
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12220.s1
16.1
M
Control (matched sibling)
NA
NA
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12281.s1
18.1
F
Control (matched sibling)
NA
NA
121479715
121498201
18487
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12337.s1
13.3
M
Control (matched sibling)
NA
NA
124450842
124467422
16581
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
122501608
122557997
56390
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
122047724
122049955
2232
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13015.s1
7.1
F
Control (matched sibling)
NA
NA
122047724
122048666
943
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
122047724
122065397
17674
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseE3F6Y_01
PCR or SNP data validation
Paternal
ATAD2
brandler_18_ASD_discovery_cases-caseREACH000443
PCR or SNP data validation
Maternal
RNU6-875P,MIR548AA1,MIR548D1,DUTP2,IMPDH1P6,ATAD2,WDYHV1
brandler_18_ASD_replication_cases-case2-0002-005
No validation step reported
Maternal
MTSS1
brandler_18_ASD_replication_cases-caseSSC08826
No validation step reported
Paternal
MTSS1
brandler_18_ASD_replication_cases-caseSSC09542
No validation step reported
Maternal
MTSS1
engchuan_15_ASD_discovery_cases-case3317_3
Unknown
engchuan_15_ASD_discovery_cases-case5421_3
Unknown
engchuan_15_ASD_discovery_cases-case5428_4
Unknown
ARF1P3,RNU6-756P,KLHL38,FAM91A1,TMEM65,TRMT12,RNF139-AS1,RNF139,FER1L6,FER1L6-AS1,FER1L6-AS2,ANXA13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
ARF1P3,RNU6-756P,MIR6844,MIR4662B,MIR4662A,RN7SL329P,TMEM65,TRMT12,RNF139-AS1,RNF139,NDUFB9,ZNF572,SQLE,FER1L6-AS2,TATDN1,MTSS1,LINC00964,WASHC5,WASHC5-AS1,NSMCE2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
CDK5P1,HMGB1P19,FAM83A-AS1,MIR4663,UBA52P5,RNU6-628P,RNU6-875P,MIR548AA1,MIR548D1,DUTP2,DERL1,C8orf76,ZHX1-C8orf76,ZHX1,ZHX2,TBC1D31,FAM83A,ATAD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003973
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR6844,TRMT12,RNF139-AS1,RNF139,NDUFB9,TATDN1,MTSS1
kanduri_15_ASD_discovery_cases-case1872
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, HAS2-AS1(dist=849945),ZHX2(dist=237401)
kanduri_15_ASD_discovery_cases-case3020
Maternal
Unknown
Unknown
Intergenic CNV: nearest genes, HAS2-AS1(dist=849945),ZHX2(dist=255953)
kanduri_15_ASD_discovery_cases-case3087
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, HAS2-AS1(dist=864758),ZHX2(dist=223665)
krumm_13_ASD_discovery_cases-case11629.p1
Paternal
Simplex
Not segregated
FER1L6,FER1L6-AS1
krumm_15_ASD_discovery_cases-case11629.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
FER1L6,FER1L6-AS1
krumm_15_ASD_discovery_cases-case12782.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
TBC1D31
krumm_15_ASD_discovery_cases-case12961.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SQLE
krumm_15_ASD_discovery_cases-case13102.p1
1M-Duov3
Maternal
Simplex
Segregated
RNF139,TATDN1
leppa_16_ASD_discovery_cases-AU1686301
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
MRPS36P3,HAS2-AS1,SMILR
leppa_16_ASD_discovery_cases-AU1686302
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
MRPS36P3,HAS2-AS1,SMILR
marshall_08_ASD_discovery_cases-SK0194-003
qPCR, qmPCR
Unknown
NA
NA
nord_11_ASD_discovery_cases-201-1
Paternal
0 genes
pinto_10_ASD_discovery_cases-case5421_3
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5428_4
Agilent1M
maternal
NA
NA
ARF1P3,RNU6-756P,KLHL38,FAM91A1,TMEM65,TRMT12,RNF139-AS1,RNF139,FER1L6,FER1L6-AS1,FER1L6-AS2,ANXA13
poultney_13_ASD_discovery_cases-case05HI3730A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FER1L6,FER1L6-AS2
prasad_12_ASD_discovery_cases-case103818L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case115745L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60539L
Unknown
Unknown
Unknown
WDR67
prasad_12_ASD_discovery_cases-case91549L
Unknown
Unknown
Unknown
ZHX1,ZHX1-C8ORF76
prasad_12_ASD_discovery_cases-case92173L
Unknown
Unknown
Unknown
FER1L6,TRMT12,FAM91A1,TMEM65,KLHL38,RNF139,ANXA13
sanders_11_ASD_discovery_cases-11073.p1
Unknown
Simplex (quad-proband matched)
Segregated
FER1L6,FER1L6-AS1
sanders_11_ASD_discovery_cases-11073.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11086.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11098.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11158.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11629.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FER1L6,FER1L6-AS1
sanders_11_ASD_discovery_cases-11883.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNF572
sanders_11_ASD_discovery_cases-12008.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12106.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZHX1-C8orf76,ZHX1
sanders_11_ASD_discovery_cases-12220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12757.p1
Unknown
Simplex (trio)
NA
FER1L6,FER1L6-AS1
sanders_11_ASD_discovery_cases-12892.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12902.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNF572
sanders_11_ASD_discovery_cases-13015.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13076.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ZNF572
sanders_11_ASD_discovery_cases-13296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
walker_13_ASD_discovery_cases-case3-0115-000
Unknown
Simplex
Unknown
RNF139,TATDN1
walker_13_ASD_discovery_cases-case3-0186-000
Long-range PCR or qPCR
Paternal
Simplex
Segregated
walker_13_ASD_discovery_cases-case8-3317-003
Long-range PCR or qPCR
Maternal
Multiplex
Not segregated (duplication absent in affected sibling)
zhou_19_ASD_discovery_cases-caseAU027101
qPCR
Maternal
FAM91A1
zhou_19_ASD_discovery_cases-caseAU036305
qPCR
Maternal
FAM91A1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC09545
No validation step reported
Maternal
MTSS1
engchuan_15_ASD_discovery_controls-controlHABC_900925_900925
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902875_902875
Unknown
kanduri_15_ASD_discovery_controls-control_split1307
Unknown
FER1L6,TMEM65
kanduri_15_ASD_discovery_controls-control_split164
Unknown
Intergenic CNV: nearest genes, HAS2-AS1(dist=849945),ZHX2(dist=255754)
krumm_13_ASD_discovery_controls-control11629.s1
Paternal
Simplex
FER1L6,FER1L6-AS1
krumm_15_ASD_discovery_controls-control11629.s1
Illumina 1MDuo
Paternal
FER1L6
krumm_15_ASD_discovery_controls-control11993.s1
Illumina 1MDuo
Paternal
FER1L6,FER1L6-AS2
krumm_15_ASD_discovery_controls-control12695.s1
Illumina 1MDuo
Paternal
SQLE
krumm_15_ASD_discovery_controls-control12782.s1
Illumina 1MDuo
Paternal
TBC1D31
levy_11_ASD_discovery_controls-11579.s1
Paternal
Simplex
NA
RN7SL329P,WASHC5,NSMCE2
nord_11_ASD_discovery_controls-04C28320
LOC157381
poultney_13_ASD_discovery_controls-control04C36026A
Unknown
FER1L6,FER1L6-AS2
sanders_11_ASD_discovery_controls-11086.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11098.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11158.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11629.s1
Paternal
Simplex (quad)
NA
FER1L6,FER1L6-AS1
sanders_11_ASD_discovery_controls-12106.s1
Paternal
Simplex (quad)
NA
ZHX1-C8orf76,ZHX1
sanders_11_ASD_discovery_controls-12220.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12281.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12337.s1
Maternal
Simplex (quad)
NA
TRMT12,RNF139-AS1
sanders_11_ASD_discovery_controls-12341.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12892.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13015.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13296.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available