4q26CNV Type: Deletion-Duplication
Largest CNV size: 2423104 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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
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.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
539555
0
1
1
bitar_19_ASD_discovery_cases
ASD cases selected through specialized institutions and NGOs specializing in mental disorders throughout Lebanon
19
Cases diagnosed with ASD using DSM-IV criteria and CARS
N/A
84.21% Male
13000
1
0
1
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
3958
1
0
1
cusco_09_ASD_discovery_cases
74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
96
ASD
87.5% Male
2423104
0
1
1
cusco_09_ASD_replication_cases
Replication cohort of ASD patients
215
ASD
2423104
0
0
0
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
722563
1
6
7
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
17858
0
1
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
82542
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
71082
7
2
9
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
68989
8
4
12
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
1702000
0
2
2
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
294228
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
4216
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cusco_09_ASD_discovery_controls
Control individuals matched for population ancestry
52
Control
51.9% Male
2423104
0
0
0
cusco_09_ASD_replication_controls
Replication control cohort
120
Control
2423104
0
0
0
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
431263
3
2
5
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
576750
1
0
1
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
62230
0
1
1
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)
71082
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.
79556
7
2
9
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
294228
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
None
bitar_19_ASD_discovery_cases
Lebanon
aCGH
Agilent SurePrint G3 2x400K
ADM-2
Agilent Cytogenomics v.3.0.6.6, Agilent Feature Extraction
qPCR
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
cusco_09_ASD_discovery_cases
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
PennCNV
CNV partition
MLPA, aCGH, array SNP
cusco_09_ASD_replication_cases
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
None (CNV validation not available, CNV not detected by validation method, or CNV not detected by WGS but was detected by validation methodology)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cusco_09_ASD_discovery_controls
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
cusco_09_ASD_replication_controls
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
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
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
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case11
9 yrs.
F
Developmental delay and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 30th %ile, length 60th %ile, OFC 70th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Family history: mother with intellectual disability and facial dysmorphisms.
Learning disabilities
113228640
113768194
539555
GRCh38
Duplication
No
bitar_19_ASD_discovery_cases-case12
N/A
M
ASD
Case diagnosed with ASD using DSM-IV criteria and CARS. Behavioral/psychiatric evaluation: hyperactivity, echolalia. Family history: born to consanguineous parents (first degree cousins); family history not available.
118347092
118360264
13173
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseAU3645301
N/A
M
ASD
Case from MSSNG cohort
113366604
113370561
3958
GRCh38
Deletion
No
cusco_09_ASD_discovery_cases-AUT24
NA
M
Autism
Neurosensorial deafness (65 dB), diaphagmatic hernia
Moderate MR
117191242
119614346
2423104
Unknown
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13015_203
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
117144766
117181736
36971
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14061_1040
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
118283565
118562260
278696
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14128_2240
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113931549
114654112
722564
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2303_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114530452
114563671
33220
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3476_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114421377
114511945
90569
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4403_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
118619018
118765458
146441
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8447_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
114438376
114519788
81413
GRCh38
Duplication
No
krumm_15_ASD_discovery_cases-case11554.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
119304244
119322102
17859
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-NA0016-000
NA
F
ASD
NA
NA
113054749
113137291
82543
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100573L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
119333615
119349029
15415
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case117371L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
119333328
119349029
15702
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case126173
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
117646158
117710673
64516
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case51524
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
114191408
114262489
71082
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64249L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
119333328
119349029
15702
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case71118
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
118376337
118402161
25825
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case82366
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
119333328
119349029
15702
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case84635
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
120228089
120242988
14900
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case85279L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
117640724
117686033
45310
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11229.p1
9.4
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 68; verbal IQ, 56
117487090
117503020
15931
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11331.p1
5.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ 81
116416967
116485957
68991
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
119304193
119328029
23837
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
114517952
114519788
1837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11869.p1
10.1
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
114517952
114519788
1837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11918.p1
9.8
F
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 39
118336564
118381869
45306
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
114530452
114578518
48067
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
114517952
114519788
1837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12315.p1
5.8
M
ASD
NA
Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
114517952
114519788
1837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12407.p1
9.4
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 86; verbal IQ, 41
114517952
114519788
1837
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12736.p1
4.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
117672647
117678039
5393
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13251.p1
7.7
F
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 93; verbal IQ, 102
119150771
119211192
60422
GRCh38
Duplication
No
szatmari_07_ASD_discovery_cases-NAAR010-F6-8268-111
NA
ASD
NA
NA
115245240
116947241
1702002
GRCh38
Duplication
Yes
szatmari_07_ASD_discovery_cases-NAAR010-F7-8268-201
NA
ASD
NA
NA
116068240
116947241
879002
GRCh38
Duplication
Yes
yin_16_ASD_discovery_cases-case206
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
115113212
115407439
294228
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-caseAU3645301
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
113366345
113370561
4217
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB216574_1007873989
N/A
N/A
Control
No previous psychiatric history
117492594
117598351
105758
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB392973_1007852618
N/A
N/A
Control
No previous psychiatric history
113948468
113992954
44487
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB887823_1007874701
N/A
N/A
Control
No previous psychiatric history
116126070
116557334
431265
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900048_900048
N/A
N/A
Control
No previous psychiatric history
116485957
116576546
90590
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900630_900630
N/A
N/A
Control
No previous psychiatric history
118068312
118234074
165763
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_controls-8206105715
N/A
N/A
Control
Ethnicity: Caucasian
N/A
115247148
115823898
576751
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1158
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
120309500
120371729
62230
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11229.s1
6.1
M
Control (matched sibling)
NA
NA
117487090
117503020
15931
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
113435007
113440730
5724
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11721.s1
6.9
M
Control (matched sibling)
NA
NA
114517952
114519788
1837
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11869.s1
5.5
F
Control (matched sibling)
NA
NA
114517952
114519788
1837
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11981.s1
8.6
F
Control (matched sibling)
NA
NA
114154568
114167645
13078
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
116413950
116493507
79558
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12390.s1
4.3
M
Control (matched sibling)
NA
NA
113627145
113640577
13433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12864.s1
12.9
F
Control (matched sibling)
NA
NA
115987555
115993196
5642
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13251.s1
6.3
F
Control (matched sibling)
NA
NA
119155986
119205962
49977
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case11
Maternal
Maternal
Multi-generational
Segregated
RN7SL184P,RNU1-138P,CAMK2D,ANK2
bitar_19_ASD_discovery_cases-case12
qPCR
Unknown
PRSS12
brandler_18_ASD_replication_cases-caseAU3645301
No validation step reported
Paternal
ANK2
cusco_09_ASD_discovery_cases-AUT24
MLPA & aCGH (Agilent 44k or 244K)
Maternal
NA
NA
NDST3, PRSS12, TRAM1L1
engchuan_15_ASD_discovery_cases-case13015_203
Unknown
engchuan_15_ASD_discovery_cases-case14061_1040
Unknown
NDUFS5P5,PRSS12,CEP170P1
engchuan_15_ASD_discovery_cases-case14128_2240
Unknown
UGT8,ARSJ
engchuan_15_ASD_discovery_cases-case2303_1
Unknown
engchuan_15_ASD_discovery_cases-case3476_3
Unknown
engchuan_15_ASD_discovery_cases-case4403_1
Unknown
SEPT14P4,CICP16,METTL14,SEC24D
engchuan_15_ASD_discovery_cases-case8447_201
Unknown
krumm_15_ASD_discovery_cases-case11554.p1
Illumina 1M
Maternal
Simplex
Segregated
C4orf3,FABP2
marshall_08_ASD_discovery_cases-NA0016-000
qPCR, qmPCR
Unknown
NA
NA
MIR1243,ANK2
prasad_12_ASD_discovery_cases-case100573L
Unknown
Unknown
Unknown
NDST3
prasad_12_ASD_discovery_cases-case117371L
Unknown
Unknown
Unknown
NDST3
prasad_12_ASD_discovery_cases-case126173
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case51524
Unknown
Unknown
Unknown
MIR1243,ANK2
prasad_12_ASD_discovery_cases-case64249L
Unknown
Unknown
Unknown
NDST3
prasad_12_ASD_discovery_cases-case71118
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case82366
Unknown
Unknown
Unknown
NDST3
prasad_12_ASD_discovery_cases-case84635
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85279L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11229.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01378
sanders_11_ASD_discovery_cases-11331.p1
Paternal
Simplex (trio)
NA
CUL4AP1
sanders_11_ASD_discovery_cases-11554.p1
Maternal
Simplex (quad-proband matched)
Segregated
C4orf3,FABP2
sanders_11_ASD_discovery_cases-11721.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11869.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11918.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PRSS12
sanders_11_ASD_discovery_cases-11962.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12003.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12315.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12407.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12736.p1
Maternal
Simplex (quad-proband matched)
Not segregated
LINC01378
sanders_11_ASD_discovery_cases-13251.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MYOZ2
szatmari_07_ASD_discovery_cases-NAAR010-F6-8268-111
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RPF2P2,PGAM4P2,KRT18P21,EIF3KP3,TTC39CP1,MTRNR2L13,MIR1973,TRMT112P1,CUL4AP1,ACTN4P1,RNU6-119P
szatmari_07_ASD_discovery_cases-NAAR010-F7-8268-201
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
TTC39CP1,MTRNR2L13,MIR1973,TRMT112P1,CUL4AP1,ACTN4P1,RNU6-119P
yin_16_ASD_discovery_cases-case206
Unknown
Unknown
Unknown
MRPS33P3,NDST4
yuen_17_ASD_discovery_cases-caseAU3645301
Not available
Paternal
Simplex
Unknown
ANK2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB216574_1007873989
Unknown
NT5C3AP1,LINC01378
engchuan_15_ASD_discovery_controls-controlB392973_1007852618
Unknown
ARSJ
engchuan_15_ASD_discovery_controls-controlB887823_1007874701
Unknown
TTC39CP1,MTRNR2L13,MIR1973,TRMT112P1,CUL4AP1
engchuan_15_ASD_discovery_controls-controlHABC_900048_900048
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900630_900630
Unknown
FKBP4P1,NDST3
girirajan_13b_ASD_discovery_controls-8206105715
Unknown
RPF2P2,PGAM4P2
kanduri_15_ASD_discovery_controls-control_split1158
Unknown
LINC01061 (non-coding RNA, exonic)
sanders_11_ASD_discovery_controls-11229.s1
Paternal
Simplex (quad)
NA
LINC01378
sanders_11_ASD_discovery_controls-11700.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11721.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11869.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11981.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12120.s1
Paternal
Simplex (quad)
NA
CUL4AP1
sanders_11_ASD_discovery_controls-12390.s1
Maternal
Simplex (quad)
NA
CAMK2D
sanders_11_ASD_discovery_controls-12864.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13251.s1
Maternal
Simplex (quad)
NA
MYOZ2
No Animal Model Data Available