9q34.2CNV Type: Deletion-Duplication
Largest CNV size: 285000 bp
Statistics Box:
Number of Reports: 12
Number of Reports: 12
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
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.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
277668
2
2
4
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
302631
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
318686
0
1
1
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
3004
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1473
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
206857
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)
9899
0
1
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
208308
2
1
3
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
85923
0
2
2
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
38970
20
19
39
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
285000
0
1
1
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
118157
0
1
1
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
204228
0
3
3
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
302631
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
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)
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)
208308
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.
118157
8
19
27
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
118157
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
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
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)
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
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by 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
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
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
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_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
Cases
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_cases-case4195_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133244140
133532073
287934
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5257_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
134448667
134566824
118158
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5429_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133874964
133920718
45755
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5516_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
133050630
133257486
206857
GRCh38
Deletion
No
girirajan_11_ASD_discovery_cases-Si258
12
M
Autism
ADOS score: 6. Vineland composite score: 69.
No mental retardation/intellectual disability. Full-scale IQ, 74; Verbal IQ, 80; Non-verbal IQ, 74.
134199558
134502209
302652
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004268
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
133459236
133777922
318687
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13418.p1
N/A
M
ASD
ASD proband from SSC quad family 13418. SRS score of 61.
Full-scale IQ (FSIQ) score of 135.
133394290
133397294
3005
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case13418.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
133394290
133395763
1474
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5429_3
NA
M
ASD
NA
NA
133874964
133920718
45755
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5516_3
NA
M
ASD
NA
NA
133050630
133257486
206857
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1575A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU075603; NDAR ID NDAR_INVDH495KHG)
133056764
133066662
9899
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case122692L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
134914497
135122804
208308
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case94790
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
135726354
135776915
50562
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99408
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
136480763
136598678
117916
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: no. Intellectual disability: no.
133506102
133592024
85923
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
133506102
133589578
83477
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11030.p1
8.3
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
133075844
133082065
6222
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11054.p1
13
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
133069650
133082065
12416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11059.p1
6.6
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 103; verbal IQ, 119
133070567
133082065
11499
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11090.p1
11.7
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 67; verbal IQ, 53
133071778
133082065
10288
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11312.p1
10
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
133066817
133080285
13469
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11323.p1
8.6
F
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 114; verbal IQ, 98
133066817
133082065
15249
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11372.p1
5.7
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 123; verbal IQ, 99
134396900
134428190
31291
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11446.p1
8.3
M
Autism
NA
Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 63
134382012
134420982
38971
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11483.p1
9.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
133061291
133078923
17633
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11512.p1
5.7
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
133061291
133080285
18995
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11536.p1
5.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
133070567
133082065
11499
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11545.p1
7.9
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 114; verbal IQ, 83
133075844
133082065
6222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11724.p1
10.9
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
133071778
133080285
8508
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
133069650
133082065
12416
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11827.p1
17.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 125; verbal IQ, 73
133061291
133080285
18995
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11922.p1
11.2
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 90
133162327
133163373
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11933.p1
8.7
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
133162327
133164763
2437
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11948.p1
9.5
F
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
133255902
133257230
1329
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11948.p1
9.5
F
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
134400659
134423447
22789
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11986.p1
10.5
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 101; verbal IQ, 123
134400659
134438714
38056
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11989.p1
9.6
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
134400659
134420982
20324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
133162327
133163373
1047
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
134382012
134418113
36102
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
133075844
133082065
6222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
133253973
133258116
4144
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
133061291
133080285
18995
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12323.p1
10.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 92
133066817
133082065
15249
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
133061291
133081730
20440
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12367.p1
9.4
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 117
133071778
133082065
10288
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12578.p1
5.4
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 83; verbal IQ, 81
133061291
133078923
17633
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12600.p1
7.9
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 103; verbal IQ, 69
133066817
133080285
13469
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12695.p1
12.3
M
Autism
NA
Full-scale IQ, 49; non-verbal IQ, 56; verbal IQ, 35
133061291
133078923
17633
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12749.p1
7.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
133075844
133082065
6222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
133069650
133082065
12416
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13005.p1
4.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 116; verbal IQ, 114
133075844
133082065
6222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13031.p1
5.1
F
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
133066817
133082065
15249
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13035.p1
4.8
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
133071778
133082065
10288
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13218.p1
6.9
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 98; verbal IQ, 93
133071778
133080285
8508
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
133071778
133080285
8508
GRCh38
Deletion
No
shen_10_ASD_discovery_cases-ASD-09-048
NA
M
PDD-NOS
NA
NA
136013220
136298049
285000
NCBI36
Duplication
No
walker_13_ASD_discovery_cases-case2-1189-003
N/A
M
ASD
N/A
N/A
134448667
134566824
118158
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
engchuan_15_ASD_discovery_controls-control110036014751_
N/A
N/A
Control
No previous psychiatric history
133530851
133735079
204229
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB220230_1007853908
N/A
N/A
Control
No previous psychiatric history
133453946
133563561
109616
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900466_900466
N/A
N/A
Control
No previous psychiatric history
133422462
133457407
34946
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11030.s1
5.3
F
Control (matched sibling)
NA
NA
133075844
133082065
6222
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11250.s1
12.7
F
Control (matched sibling)
NA
NA
133075844
133082065
6222
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
134448667
134566824
118158
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11312.s1
12.6
M
Control (matched sibling)
NA
NA
133069650
133080285
10636
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
133061291
133078923
17633
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11323.s1
6.3
F
Control (matched sibling)
NA
NA
133066817
133082065
15249
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
133066817
133082065
15249
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11372.s1
4
M
Control (matched sibling)
NA
NA
134400659
134420982
20324
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11499.s1
12.9
M
Control (matched sibling)
NA
NA
133061291
133078923
17633
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
133075844
133082065
6222
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
133075844
133082065
6222
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
133075844
133082065
6222
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
133069650
133082065
12416
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11827.s1
20
F
Control (matched sibling)
NA
NA
133061291
133078923
17633
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11972.s1
5.2
F
Control (matched sibling)
NA
NA
133061291
133078923
17633
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11986.s1
9
F
Control (matched sibling)
NA
NA
133162327
133164763
2437
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12101.s1
5.1
M
Control (matched sibling)
NA
NA
133061291
133080285
18995
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12161.s1
7.7
F
Control (matched sibling)
NA
NA
133071778
133082065
10288
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12198.s1
11.3
M
Control (matched sibling)
NA
NA
133061291
133080285
18995
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12250.s1
6
F
Control (matched sibling)
NA
NA
133061291
133080285
18995
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12323.s1
4
F
Control (matched sibling)
NA
NA
133061291
133082065
20775
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
133061291
133081730
20440
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12524.s1
4.4
F
Control (matched sibling)
NA
NA
133070567
133080285
9719
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
133071778
133082065
10288
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12722.s1
6.8
M
Control (matched sibling)
NA
NA
133075844
133082065
6222
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
133061291
133080285
18995
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
133071778
133082065
10288
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case4195_1
Unknown
LCN1P2,MED22,SNORD24,SNORD36B,SNORD36A,SNORD36C,SURF1,SURF2,SLC2A6,MYMK,ABO,SURF6,RPL7A,SURF4,STKLD1,REXO4,CACFD1,ADAMTS13
engchuan_15_ASD_discovery_cases-case5257_3
Unknown
engchuan_15_ASD_discovery_cases-case5429_3
Unknown
VAV2
engchuan_15_ASD_discovery_cases-case5516_3
Unknown
MIR6877,GBGT1,OBP2B,LCN1P1,CEL,CELP,RALGDS,ABO,GTF3C5
girirajan_11_ASD_discovery_cases-Si258
Unknown
Simplex
LINC02247,MIR4669,RXRA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004268
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SLC2A6,MYMK,DBH-AS1,CACFD1,FAM163B,DBH,ADAMTS13,ADAMTSL2,SARDH,VAV2
krumm_13_ASD_discovery_cases-case13418.p1
Maternal
Simplex
Segregated
STKLD1
krumm_15_ASD_discovery_cases-case13418.p1
1M-Duov3
Maternal
Simplex
Segregated
STKLD1
pinto_10_ASD_discovery_cases-case5429_3
Agilent1M
paternal
NA
NA
VAV2
pinto_10_ASD_discovery_cases-case5516_3
Agilent1M
paternal
NA
NA
MIR6877,GBGT1,OBP2B,LCN1P1,CEL,CELP,RALGDS,ABO,GTF3C5
poultney_13_ASD_discovery_cases-case00HI1575A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CEL,GTF3C5
prasad_12_ASD_discovery_cases-case122692L
Unknown
Unknown
Unknown
GBGT1,RALGDS,OBP2B,CEL,CELP,ABO,GTF3C5
prasad_12_ASD_discovery_cases-case94790
Unknown
Unknown
Unknown
VAV2
prasad_12_ASD_discovery_cases-case99408
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1605-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
MYMK,FAM163B,ADAMTSL2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1674-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
MYMK,FAM163B,ADAMTSL2
sanders_11_ASD_discovery_cases-11030.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CELP
sanders_11_ASD_discovery_cases-11054.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11059.p1
Paternal
Simplex (quad-proband matched)
Segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11090.p1
Maternal
Simplex (quad-proband matched)
Segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11312.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11323.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11372.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RXRA
sanders_11_ASD_discovery_cases-11446.p1
Unknown
Simplex (quad-proband matched)
Segregated
RXRA
sanders_11_ASD_discovery_cases-11483.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL
sanders_11_ASD_discovery_cases-11512.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11545.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CELP
sanders_11_ASD_discovery_cases-11724.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11808.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11827.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-11922.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GBGT1
sanders_11_ASD_discovery_cases-11933.p1
Paternal
Simplex (quad-proband matched)
Not segregated
GBGT1
sanders_11_ASD_discovery_cases-11948.p1
Both parents
Simplex (quad-proband matched)
Not segregated
ABO
sanders_11_ASD_discovery_cases-11948.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RXRA
sanders_11_ASD_discovery_cases-11986.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RXRA
sanders_11_ASD_discovery_cases-11989.p1
Both parents
Simplex (quad-proband matched)
Not segregated
RXRA
sanders_11_ASD_discovery_cases-12019.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
GBGT1
sanders_11_ASD_discovery_cases-12019.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
RXRA
sanders_11_ASD_discovery_cases-12019.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CELP
sanders_11_ASD_discovery_cases-12071.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ABO
sanders_11_ASD_discovery_cases-12261.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-12323.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-12335.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-12367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-12578.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CEL
sanders_11_ASD_discovery_cases-12600.p1
Both parents
Simplex (trio)
NA
CEL,CELP
sanders_11_ASD_discovery_cases-12695.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CEL
sanders_11_ASD_discovery_cases-12749.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CELP
sanders_11_ASD_discovery_cases-12757.p1
Paternal
Simplex (trio)
NA
CEL,CELP
sanders_11_ASD_discovery_cases-13005.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CELP
sanders_11_ASD_discovery_cases-13031.p1
Maternal
Simplex (trio)
NA
CEL,CELP
sanders_11_ASD_discovery_cases-13035.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
sanders_11_ASD_discovery_cases-13218.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
CEL,CELP
sanders_11_ASD_discovery_cases-13266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CEL,CELP
shen_10_ASD_discovery_cases-ASD-09-048
De novo
NA
NA
WDR5,RNU6ATAC
walker_13_ASD_discovery_cases-case2-1189-003
Long-range PCR or qPCR
Maternal
Simplex
Not segregated (duplication present in unaffected sibling)
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014751_
Unknown
DBH-AS1,FAM163B,DBH,ADAMTSL2,SARDH
engchuan_15_ASD_discovery_controls-controlB220230_1007853908
Unknown
SLC2A6,MYMK,CACFD1,ADAMTS13,ADAMTSL2
engchuan_15_ASD_discovery_controls-controlHABC_900466_900466
Unknown
ADAMTS13
sanders_11_ASD_discovery_controls-11030.s1
Paternal
Simplex (quad)
NA
CELP
sanders_11_ASD_discovery_controls-11250.s1
Maternal
Simplex (quad)
NA
CELP
sanders_11_ASD_discovery_controls-11298.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11312.s1
Maternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-11316.s1
Paternal
Simplex (quad)
NA
CEL
sanders_11_ASD_discovery_controls-11323.s1
Maternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-11347.s1
Paternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-11372.s1
Both parents
Simplex (quad)
NA
RXRA
sanders_11_ASD_discovery_controls-11499.s1
Maternal
Simplex (quad)
NA
CEL
sanders_11_ASD_discovery_controls-11543.s1
Paternal
Simplex (quad)
NA
CELP
sanders_11_ASD_discovery_controls-11545.s1
Paternal
Simplex (quad)
NA
CELP
sanders_11_ASD_discovery_controls-11556.s1
Paternal
Simplex (quad)
NA
CELP
sanders_11_ASD_discovery_controls-11696.s1
Paternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-11827.s1
Paternal
Simplex (quad)
NA
CEL
sanders_11_ASD_discovery_controls-11972.s1
Maternal
Simplex (quad)
NA
CEL
sanders_11_ASD_discovery_controls-11986.s1
Maternal
Simplex (quad)
NA
GBGT1
sanders_11_ASD_discovery_controls-12101.s1
Paternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-12161.s1
Maternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-12198.s1
Paternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-12250.s1
Maternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-12323.s1
Maternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-12335.s1
Paternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-12524.s1
Maternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-12656.s1
Paternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-12722.s1
Paternal
Simplex (quad)
NA
CELP
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
CEL,CELP
sanders_11_ASD_discovery_controls-13266.s1
Maternal
Simplex (quad)
NA
CEL,CELP
No Animal Model Data Available