9p13.3CNV Type: Deletion-Duplication
Largest CNV size: 240465 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
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
7553
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
141420
0
1
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
74529
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
823002
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
61707
7
1
8
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
64321
2
2
4
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
69629
1
0
1
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
240465
0
1
1
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)
3307
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
190658
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
121922
4
4
8
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
288532
0
2
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
182174
1
3
4
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
192028
0
1
1
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
104282
5
1
6
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
588207
3
4
7
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
69629
1
0
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
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)
331494
2
9
11
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)
190658
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.
118880
4
2
6
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
288532
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
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
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
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
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
celestino-soper_11_ASD_discovery_cases-11076
NA
M
ASD
NA
NA
36100486
36108039
7554
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5402_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34143309
34284729
141421
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case562-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
33876492
33951021
74530
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
34340255
35163258
823004
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12308.p1
N/A
F
ASD
ASD proband from SSC quad family 12308. SRS score of 90.
Full-scale IQ (FSIQ) score of 105.
35662945
35664492
1548
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12534.p1
N/A
F
ASD
ASD proband from SSC quad family 12534. SRS score of 90.
Full-scale IQ (FSIQ) score of 81.
35662945
35664492
1548
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12578.p1
N/A
M
ASD
ASD proband from SSC quad family 12578. SRS score of 79.
Full-scale IQ (FSIQ) score of 81.
35662945
35664492
1548
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12637.p1
N/A
M
ASD
ASD proband from SSC quad family 12637. SRS score of 72.
Full-scale IQ (FSIQ) score of 105.
35662945
35664492
1548
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12741.p1
N/A
M
ASD
ASD proband from SSC quad family 12741. SRS score of 86.
Full-scale IQ (FSIQ) score of 74.
35228014
35237826
9813
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12829.p1
N/A
M
ASD
ASD proband from SSC quad family 12829. SRS score of 72.
Full-scale IQ (FSIQ) score of 133.
35662945
35664492
1548
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13129.p1
N/A
M
ASD
ASD proband from SSC quad family 13129. SRS score of 78.
Full-scale IQ (FSIQ) score of 31.
33886880
33948587
61708
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13589.p1
N/A
M
ASD
ASD proband from SSC quad family 13589. SRS score of 78.
Full-scale IQ (FSIQ) score of 56.
34286616
34290389
3774
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case12613.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
34646704
34650449
3746
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12741.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
35228014
35236586
8573
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13001.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
34306251
34311346
5096
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13129.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33886880
33951201
64322
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12741.p1
NA
M
ASD
NA
NA
35171703
35241331
69629
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0105-000
NA
M
ASD
NA
NA
33064338
33304802
240465
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
35810245
35813551
3307
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case59641L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
33655043
33845700
190658
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case72085
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
33086888
33266560
179673
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11917.p1
8
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
33141754
33263676
121923
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12158.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
33522717
33567811
45095
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
33141754
33260634
118881
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12336.p1
4.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 132; verbal IQ, 104
36261114
36266445
5332
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12435.p1
11.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
33079025
33097998
18974
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12613.p1
12.6
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
34643322
34651059
7738
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12741.p1
7.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
35171908
35238098
66191
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13051.p1
6.9
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
34177660
34210874
33215
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family52_Twin_2
N/A
N/A
NDD
Case is from a monozygotic twin pair from the Discordant NDD diagnostic group
33923985
34187356
263372
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family52_Twin_4
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
33898825
34187356
288532
GRCh38
Duplication
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-controlHABC_900128_900128
N/A
N/A
Control
No previous psychiatric history
33738729
33811148
72420
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900362_900362
N/A
N/A
Control
No previous psychiatric history
35171908
35238098
66191
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900546_900546
N/A
N/A
Control
No previous psychiatric history
33675631
33857805
182175
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
N/A
N/A
Control
No previous psychiatric history
33721937
33792267
70331
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split625
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
33935736
34127763
192028
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12741.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12741. SRS score of 38.
35228014
35237826
9813
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_controls-control12829.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12829. SRS score of 70.
35662945
35664492
1548
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_controls-control13099.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13099. SRS score of 38.
35664007
35664492
486
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13129.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13129. SRS score of 35.
33886880
33948587
61708
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control13589.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13589. SRS score of 38.
34286616
34290389
3774
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13601.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13601. SRS score of 40.
35649847
35754129
104283
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12447.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33817757
34405964
588208
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12613.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
34646704
34650449
3746
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control12741.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35228014
35237826
9813
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13001.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
34306251
34311346
5096
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13129.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33886880
33948587
61708
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13601.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
35649847
35754129
104283
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13905.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33442851
33472414
29564
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-12741.s1
NA
M
Control
NA
NA
35171703
35241331
69629
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
35714758
35736728
21971
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
35064152
35102825
38674
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31170A
N/A
F
Control
NIMH Control (NIMH ID 59702)
35809936
35853259
43324
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44482
N/A
F
Control
NIMH Control (NIMH ID 72407)
35228013
35237828
9816
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44563
N/A
F
Control
NIMH Control (NIMH ID 10056)
33271150
33303270
32121
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
34978013
35089452
111440
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
35699354
35725696
26343
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
35243289
35559274
315986
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
33467689
33799182
331494
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
35800020
35853842
53823
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44621
N/A
M
Control
NIMH Control (NIMH ID 39000)
34490367
34557986
67620
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11676.s1
4.3
F
Control (matched sibling)
NA
NA
34290409
34303924
13516
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11964.s1
6.7
F
Control (matched sibling)
NA
NA
33657320
33666011
8692
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
33919178
33934196
15019
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12252.s1
4.1
M
Control (matched sibling)
NA
NA
33141754
33260634
118881
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12741.s1
5.9
M
Control (matched sibling)
NA
NA
35171908
35238098
66191
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
34298012
34303924
5913
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family52_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Discordant NDD diagnostic subgroup
33898825
34187356
288532
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11076
Unknown
Simplex
NA
RECK
engchuan_15_ASD_discovery_cases-case5402_3
Unknown
RNA5SP282,RNU2-50P,KIF24,UBAP1
gazzellone_14_ASD_discovery_cases-case562-3
Unknown
Unknown
Unknown
SNORD121B,UBE2R2,UBAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004993
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP24,RPP25L,ARID3C,GALT,CCL27,CCL19,CCL21,FAM205A,FAM205C,GLULP4,YWHAZP6,DNAJB5-DT,SYF2P2,RN7SL338P,STOML2,MYORG,C9orf24,FAM219A,ENHO,CNTFR,CNTFR-AS1,DCTN3,SIGMAR1,IL11RA,FAM205BP,PHF24,C9orf131,VCP,FANCG,PIGO,FAM214B,NUDT2,DNAI1,DNAJB5,UNC13B
krumm_13_ASD_discovery_cases-case12308.p1
Maternal
Simplex
Segregated
ARHGEF39
krumm_13_ASD_discovery_cases-case12534.p1
Paternal
Simplex
Segregated
ARHGEF39
krumm_13_ASD_discovery_cases-case12578.p1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Segregated
ARHGEF39
krumm_13_ASD_discovery_cases-case12637.p1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
Segregated
ARHGEF39
krumm_13_ASD_discovery_cases-case12741.p1
Maternal
Simplex
Not segregated
UNC13B
krumm_13_ASD_discovery_cases-case12829.p1
Maternal
Simplex
Not segregated
ARHGEF39
krumm_13_ASD_discovery_cases-case13129.p1
Maternal
Simplex
Not segregated
SNORD121B,UBE2R2,UBAP2
krumm_13_ASD_discovery_cases-case13589.p1
Maternal
Simplex
Not segregated
KIF24
krumm_15_ASD_discovery_cases-case12613.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GALT
krumm_15_ASD_discovery_cases-case12741.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
UNC13B
krumm_15_ASD_discovery_cases-case13001.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
KIF24
krumm_15_ASD_discovery_cases-case13129.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SNORD121B,UBE2R2,UBAP2
levy_11_ASD_discovery_cases-12741.p1
Maternal
Simplex
Not segregated
UNC13B
marshall_08_ASD_discovery_cases-NA0105-000
qPCR, qmPCR
Unknown
NA
NA
RNU4ATAC15P,SMU1,B4GALT1-AS1,SPINK4,BAG1,CHMP5,B4GALT1,NFX1
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
SPAG8,HINT2
prasad_12_ASD_discovery_cases-case59641L
qPCR
Maternal
Unknown
Unknown
PTENP1,PRSS3,UBE2R2
prasad_12_ASD_discovery_cases-case72085
Unknown
Unknown
Unknown
B4GALT1,BAG1,SPINK4,CHMP5
sanders_11_ASD_discovery_cases-11917.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNU4ATAC15P,B4GALT1-AS1,SPINK4,BAG1,B4GALT1
sanders_11_ASD_discovery_cases-12158.p1
Maternal
Simplex (trio)
NA
ANKRD18B
sanders_11_ASD_discovery_cases-12252.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU4ATAC15P,B4GALT1-AS1,SPINK4,BAG1,B4GALT1
sanders_11_ASD_discovery_cases-12336.p1
Paternal
Simplex (trio)
NA
CLTA,GNE
sanders_11_ASD_discovery_cases-12435.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12613.p1
Maternal
Simplex (quad-proband matched)
Segregated
GALT,IL11RA
sanders_11_ASD_discovery_cases-12741.p1
Maternal
Simplex (quad-proband matched)
Not segregated
UNC13B
sanders_11_ASD_discovery_cases-13051.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNA5SP282,UBAP1
stamouli_18_ASD/NDD_discovery_cases-family52_Twin_2
Unknown
Multiplex
Not segregated (CNV also present in unaffected twin)
SNORD121B,SNORD121A,OSTCP8,RN7SKP114,TUBB4BP2,DCAF12,UBAP2,UBAP1
stamouli_18_ASD/NDD_discovery_cases-family52_Twin_4
Unknown
Multiplex
Not segregated (CNV also present in unaffected twin)
SNORD121B,SNORD121A,OSTCP8,RN7SKP114,TUBB4BP2,UBE2R2,DCAF12,UBAP2,UBAP1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900128_900128
Unknown
TRBV29OR9-2,PRSS3,UBE2R2-AS1
engchuan_15_ASD_discovery_controls-controlHABC_900362_900362
Unknown
UNC13B
engchuan_15_ASD_discovery_controls-controlHABC_900546_900546
Unknown
PTENP1,TRBV26OR9-2,TRBV29OR9-2,LINC01251,PRSS3,UBE2R2,PTENP1-AS,UBE2R2-AS1
engchuan_15_ASD_discovery_controls-controlHABC_902634_902634
Unknown
TRBV29OR9-2,LINC01251,PRSS3,UBE2R2-AS1
kanduri_15_ASD_discovery_controls-control_split625
Unknown
DCAF12,UBAP2
krumm_13_ASD_discovery_controls-control12741.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
UNC13B
krumm_13_ASD_discovery_controls-control12829.s1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
ARHGEF39
krumm_13_ASD_discovery_controls-control13099.s1
Paternal
Simplex
ARHGEF39
krumm_13_ASD_discovery_controls-control13129.s1
Maternal
Simplex
SNORD121B,UBE2R2,UBAP2
krumm_13_ASD_discovery_controls-control13589.s1
Maternal
Simplex
KIF24
krumm_13_ASD_discovery_controls-control13601.s1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
SIT1,RMRP,CCDC107,RN7SL22P,CA9,MIR6852,MIR6853,GBA2,MSMP,ARHGEF39,TPM2,TLN1,CREB3,RGP1
krumm_15_ASD_discovery_controls-control12447.s1
Illumina 1MDuo
De novo
RNU4ATAC11P,SNORD121B,SNORD121A,OSTCP8,RN7SKP114,TUBB4BP2,RNA5SP282,RNU2-50P,SERPINH1P1,UBE2R2,DCAF12,KIF24,MYORG,C9orf24,FAM219A,UBE2R2-AS1,UBAP2,UBAP1,NUDT2
krumm_15_ASD_discovery_controls-control12613.s1
Illumina 1MDuo
Maternal
GALT
krumm_15_ASD_discovery_controls-control12741.s1
Illumina 1MDuo
Maternal
UNC13B
krumm_15_ASD_discovery_controls-control13001.s1
Illumina 1MDuo
Maternal
KIF24
krumm_15_ASD_discovery_controls-control13129.s1
1M-Duov3
Maternal
SNORD121B,UBE2R2,UBAP2
krumm_15_ASD_discovery_controls-control13601.s1
1M-Duov3
Paternal
SIT1,RMRP,CCDC107,RN7SL22P,CA9,MIR6852,MIR6853,GBA2,MSMP,ARHGEF39,TPM2,TLN1,CREB3,RGP1
krumm_15_ASD_discovery_controls-control13905.s1
Omni2.5-4v1
Paternal
AQP3,MIR6851,NOL6
levy_11_ASD_discovery_controls-12741.s1
Maternal
Simplex
NA
UNC13B
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
MIR6853,TLN1,CREB3
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
STOML2,VCP,FANCG,PIGO
poultney_13_ASD_discovery_controls-control04C31170A
Unknown
SPAG8,HINT2,FAM221B,TMEM8B
poultney_13_ASD_discovery_controls-control05C44482
Unknown
UNC13B
poultney_13_ASD_discovery_controls-control05C44563
Unknown
CHMP5,NFX1
poultney_13_ASD_discovery_controls-control05C44621
Unknown
DNAJB5-DT,SYF2P2,RN7SL338P,PHF24,C9orf131,VCP,FANCG,PIGO,DNAJB5
poultney_13_ASD_discovery_controls-control05C44621
Unknown
MIR6852,TLN1
poultney_13_ASD_discovery_controls-control05C44621
Unknown
ZFAND6P1,RPL36AP33,ATP8B5P,UNC13B,RUSC2
poultney_13_ASD_discovery_controls-control05C44621
Unknown
MIR6851,SNX18P7,PRSS3P4,TRBV20OR9-2,ANXA2P2,TRBV21OR9-2,TRBV22OR9-2,TRBV23OR9-2,TRBV24OR9-2,TRBV25OR9-2,PTENP1,TRBV26OR9-2,TRBV29OR9-2,NOL6,SUGT1P1,CYP4F26P,LINC01251,PRSS3,PTENP1-AS,UBE2R2-AS1,ANKRD18B
poultney_13_ASD_discovery_controls-control05C44621
Unknown
SPAG8,HINT2,FAM221B,NPR2,TMEM8B
poultney_13_ASD_discovery_controls-control05C44621
Unknown
ENHO,CNTFR,DNAI1
sanders_11_ASD_discovery_controls-11676.s1
Paternal
Simplex (quad)
NA
KIF24
sanders_11_ASD_discovery_controls-11964.s1
Paternal
Simplex (quad)
NA
TRBV25OR9-2
sanders_11_ASD_discovery_controls-12048.s1
Unknown
Simplex (quad)
NA
UBE2R2,UBAP2
sanders_11_ASD_discovery_controls-12252.s1
Paternal
Simplex (quad)
NA
RNU4ATAC15P,B4GALT1-AS1,SPINK4,BAG1,B4GALT1
sanders_11_ASD_discovery_controls-12741.s1
Maternal
Simplex (quad)
NA
UNC13B
sanders_11_ASD_discovery_controls-12817.s1
Maternal
Simplex (quad)
NA
KIF24
stamouli_18_ASD/NDD_discovery_controls-family52_Twin_1
Unknown
Multiplex
SNORD121B,SNORD121A,OSTCP8,RN7SKP114,TUBB4BP2,UBE2R2,DCAF12,UBAP2,UBAP1
No Animal Model Data Available