11q24.2CNV Type: Deletion-Duplication
Largest CNV size: 462120 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
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
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
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
70279
2
1
3
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
98108
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
27586
1
1
2
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
1326
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
98045
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
462120
0
2
2
mosca_16_DCD_discovery_cases
Participants recruited as part of a multidisciplinary study at the Alberta Children's Hospital (Calgary, Alberta, Canada)
82
All cases met diagnostic criteria for developmental coordination disorder (DCD) with or without co-occurring ADHD and/or reading disorder.
Range, 8-17 years (Mean, 10.06 2.92 yrs.)
N/A
34507
1
0
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
148000
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
479954
2
3
5
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
213997
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
32910
15
2
17
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
70279
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
51570
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
112
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
0
0
0
0
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
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
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
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)
479954
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.
34110
7
0
7
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
70279
N/A
N/A
N/A
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
51570
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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
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)
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
mosca_16_DCD_discovery_cases
Canada
Solid phase hybridization
Illumina HumanOmni2.5-Quad BeadChip
iPattern, PennCNV, QuantiSNP, CNVPartition
None
napoli_17_ASD_discovery_cases
Italy
aCGH
Agilent Human Genome 4x180K
ADM-2
Feature Extraction v.10.5, Agilent Genomic Workbench Lite Edition v.7.4
RT-PCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
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
None
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_cases-case14148_2460
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124329969
124395907
65939
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14208_3350
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
124325628
124395907
70280
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20187_1464001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
127622242
127688543
66302
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case668-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
124263914
124362022
98109
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU1686301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
126371726
126399312
27587
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU2050301
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
126371726
126399312
27587
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11810.p1
N/A
M
ASD
ASD proband from SSC quad family 11810. SRS score of 71.
Full-scale IQ (FSIQ) score of 84.
124638541
124639867
1327
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case13885.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
125680728
125778773
98046
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-NA0065-000
NA
M
ASD
NA
NA
126264803
126726922
462120
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0255-003
NA
M
ASD
NA
NA
124928354
125344870
416517
GRCh38
Duplication
Yes
mosca_16_DCD_discovery_cases-case106303
N/A
M
DCD
Ancestry: European. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
124481944
124516450
34507
GRCh38
Deletion
No
napoli_17_ASD_discovery_cases-case10
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
126371498
126519784
148287
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case138952L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
126191384
126202781
11398
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case62798L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
125615834
126095787
479954
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case68785
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
124413146
124724444
311299
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case75456
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
123756497
123770839
14343
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85276L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
125750855
125766571
15717
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_533
11 yrs.
F
Developmental delay/intellectual disability
Patient originally reported in Quintela et al., 2015d (P2 in this report)
126593237
126807233
213997
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11008.p1
15.3
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
125205679
125214846
9168
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11208.p1
14.4
F
Autism
NA
Full-scale IQ, 141; non-verbal IQ, 128; verbal IQ, 149
125203747
125218374
14628
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11445.p1
8.1
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 90; verbal IQ, 67
125208604
125218374
9771
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
125209386
125218374
8989
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
124556388
124560855
4468
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
125205679
125214846
9168
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12037.p1
10.3
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 90; verbal IQ, 88
126372802
126378316
5515
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
125209386
125214846
5461
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12271.p1
10.5
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 41; verbal IQ, 40
125212228
125214846
2619
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12355.p1
4.6
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 63; verbal IQ, 55
127325492
127334069
8578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12376.p1
12.2
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 104
125205679
125214846
9168
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12396.p1
8.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
127372556
127405466
32911
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12484.p1
9.4
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 107; verbal IQ, 83
127372556
127405466
32911
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12579.p1
6.6
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 52; verbal IQ, 18
127325492
127334069
8578
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12653.p1
11
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
125208604
125214846
6243
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13042.p1
6.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
125205679
125214846
9168
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13367.p1
9.7
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
125205679
125214846
9168
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case8-14208-3350
N/A
M
ASD
N/A
N/A
124325628
124395907
70280
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case419
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
125001642
125053211
51570
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlSSC08921
N/A
F
Control
Control from SSC cohort
126584720
126584832
113
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11012.s1
6.7
F
Control (matched sibling)
NA
NA
125208604
125218374
9771
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
125205679
125214846
9168
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
126183264
126186728
3465
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11414.s1
14.8
F
Control (matched sibling)
NA
NA
125208604
125218374
9771
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12321.s1
9.8
F
Control (matched sibling)
NA
NA
127371356
127405466
34111
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12435.s1
9
F
Control (matched sibling)
NA
NA
125205679
125214846
9168
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12579.s1
7.8
F
Control (matched sibling)
NA
NA
127325492
127334069
8578
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-case14148_2460
Unknown
OR8B6P,OR8B5P,OR8B1P,OR8C1P,OR8B2,OR8B3
engchuan_15_ASD_discovery_cases-case14208_3350
Unknown
OR8B7P,OR8B6P,OR8B5P,OR8B1P,OR8C1P,OR8B2,OR8B3
engchuan_15_ASD_discovery_cases-case20187_1464001
Unknown
gazzellone_14_ASD_discovery_cases-case668-3
Unknown
Unknown
Unknown
OR8G5,SLC5A4P1,OR8D2,OR8B7P,OR8B6P,OR8B5P,OR8D1
girirajan_13a_ASD_discovery_cases-AU1686301
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
ST3GAL4
girirajan_13a_ASD_discovery_cases-AU2050301
aCGH (NimbleGen 135K array)
Maternal
Multiplex
Unknown
ST3GAL4
krumm_13_ASD_discovery_cases-case11810.p1
Maternal
Simplex
Segregated
SIAE
krumm_15_ASD_discovery_cases-case13885.p1
Omni2.5-4v1
De novo
Simplex
Segregated
ACRV1,PATE2,PATE1
marshall_08_ASD_discovery_cases-NA0065-000
qPCR, qmPCR
Unknown
NA
NA
SRPRA,RPL35AP26,FOXRED1,TIRAP,DCPS,ST3GAL4,KIRREL3-AS1,GSEC,KIRREL3
marshall_08_ASD_discovery_cases-SK0255-003
qPCR, qmPCR
Unknown
NA
NA
PKNOX2-AS1,RNU6-321P,HEPACAM,CCDC15,SLC37A2,TMEM218,KRT18P59,PKNOX2
mosca_16_DCD_discovery_cases-case106303
Unknown
Unknown
Unknown
OR8B9P,OR8B10P
napoli_17_ASD_discovery_cases-case10
RT-PCR
Unknown
ST3GAL4,KIRREL3
prasad_12_ASD_discovery_cases-case138952L
qPCR
Maternal
Unknown
Unknown
KIRREL3
prasad_12_ASD_discovery_cases-case62798L
Unknown
Unknown
Unknown
DCPS,SRPR,FLJ39051,TIRAP,FAM118B,FOXRED1,ST3GAL4,KIRREL3
prasad_12_ASD_discovery_cases-case68785
Unknown
Unknown
Unknown
SLC37A2,CCDC15,TMEM218,PKNOX2
prasad_12_ASD_discovery_cases-case75456
Unknown
Unknown
Unknown
OR8B2
prasad_12_ASD_discovery_cases-case85276L
Unknown
Unknown
Unknown
ST3GAL4
quintela_17_DD/ID_discovery_cases-caseID_533
Maternal
Unknown
KIRREL3-AS1,KIRREL3
sanders_11_ASD_discovery_cases-11008.p1
Both parents
Simplex (quad-proband matched)
Segregated
PKNOX2
sanders_11_ASD_discovery_cases-11208.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PKNOX2
sanders_11_ASD_discovery_cases-11445.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PKNOX2
sanders_11_ASD_discovery_cases-11590.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PKNOX2
sanders_11_ASD_discovery_cases-12031.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12031.p1
Maternal
Simplex (trio)
NA
PKNOX2
sanders_11_ASD_discovery_cases-12037.p1
Maternal
Simplex (quad-proband matched)
Segregated
ST3GAL4
sanders_11_ASD_discovery_cases-12113.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PKNOX2
sanders_11_ASD_discovery_cases-12271.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PKNOX2
sanders_11_ASD_discovery_cases-12355.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12376.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PKNOX2
sanders_11_ASD_discovery_cases-12396.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12484.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12579.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12653.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PKNOX2
sanders_11_ASD_discovery_cases-13042.p1
Both parents
Simplex (quad-proband matched)
Not segregated
PKNOX2
sanders_11_ASD_discovery_cases-13367.p1
Maternal
Simplex (trio)
NA
PKNOX2
walker_13_ASD_discovery_cases-case8-14208-3350
Unknown
Simplex
Unknown
OR8B7P,OR8B6P,OR8B5P,OR8B1P,OR8C1P,OR8B2,OR8B3
yin_16_ASD_discovery_cases-case419
Unknown
Unknown
Unknown
CCDC15
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC08921
PCR
De novo
KIRREL3-AS1,KIRREL3
sanders_11_ASD_discovery_controls-11012.s1
Maternal
Simplex (quad)
NA
PKNOX2
sanders_11_ASD_discovery_controls-11135.s1
Both parents
Simplex (quad)
NA
PKNOX2
sanders_11_ASD_discovery_controls-11374.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11414.s1
Paternal
Simplex (quad)
NA
PKNOX2
sanders_11_ASD_discovery_controls-12321.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12435.s1
Paternal
Simplex (quad)
NA
PKNOX2
sanders_11_ASD_discovery_controls-12579.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available