7p22.2CNV Type: Deletion-Duplication
Largest CNV size: 174917 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with 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
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
455088
0
1
1
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
42575
2
0
2
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
600
1
0
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
34911
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
174917
8
4
12
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
400580
2
3
5
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
414582
1
1
2
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
445000
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
118963
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
303110
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
6536
2
0
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
68619
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
68619
3
0
3
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
55833
2
0
2
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
80000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
71635
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
34758
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
58301
5
0
5
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
132204
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
174917
16
1
17
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
356626
1
2
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
89931
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
824004
9
7
16
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
6536
1
0
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
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
23623
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
82376
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
58301
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.
78027
11
0
11
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
356626
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
qPCR
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
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
annunziata_21_ASD_discovery_cases-caseIB240
NA
F
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
2894416
3349503
455088
GRCh38
Duplication
Yes
bacchelli_20_ASD_discovery_cases-caseAB51
N/A
F
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
3746963
3759114
12152
GRCh38
Deletion
Yes
bacchelli_20_ASD_discovery_cases-caseAB56
N/A
M
ASD and intellectual disability
ASD on ADOS and ADI-R; absence of expressive language; one febrile seizure at age 2 years; normal EEG brain MRI; obesity
Intellectual disability
4100644
4143218
42575
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
2843843
2844443
601
GRCh38
Deletion
No
cucinotta_23_ASD_discovery_cases-case324
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
3530452
3565362
34911
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14012_220
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4322595
4491309
168715
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14031_580
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2623184
2713298
90115
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14050_870
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3342157
3394643
52487
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14420_5290
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4316392
4491309
174918
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18133_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2402611
2439394
36784
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20024_1116001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3836530
3880797
44268
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4154_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2402611
2439394
36784
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5068_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3109266
3144023
34758
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5369_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3118068
3174415
56348
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6137_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3142151
3190716
48566
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6178_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
2750070
2791449
41380
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6188_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4027942
4068008
40067
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0979301
Autism
2619156
3019735
400580
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU0979302
Autism
2619156
3019735
400580
Unknown
Duplication
No
gai_11_ASD_discovery_cases-AU1352301
Autism
3350670
3400801
50132
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1352302
Autism
3350670
3400801
50132
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1466302
Autism
3411837
3477267
65431
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU055504
Autism
2257211
2671792
414582
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU067703
Autism
3340346
3421775
81430
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-AU0979301
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
2583840
3023840
440001
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-caseF73
2 yrs.
M
ASD
4249655
4368617
118963
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000946
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
2109441
2412551
303111
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1834
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
3611608
3618143
6536
Unknown
Homozygous deletion
No
krumm_13_ASD_discovery_cases-case12334.p1
N/A
M
ASD
ASD proband from SSC quad family 12334. SRS score of 61.
Full-scale IQ (FSIQ) score of 84.
4010965
4079584
68620
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11181.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3950922
3974545
23624
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12334.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
4010965
4079584
68620
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13653.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
4187764
4204311
16548
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-MM0088-003
NA
F
ASD
RL/EL moderate delay, severe repetitive behavior, mild dysmorphism
IQ/LOF 82
3109264
3152021
42758
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-NA0147-000
NA
M
ASD
NA
NA
4133981
4189813
55833
GRCh38
Deletion
Yes
napoli_17_ASD_discovery_cases-case23
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
3663686
3742976
79291
GRCh38
Deletion
Yes
nord_11_ASD_discovery_cases-212-1
ASD
3896634
3968268
71635
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5068_3
NA
F
Autism
Language delay, motor delay, neurologic assessment negaNve, adherent ear lobes; 16p11.2 microdeletion syndrome, 50% mosaicism
Low average IQ
3109266
3144023
34758
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case119974L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
3320772
3331556
10785
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case121815
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
2743551
2748723
5173
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case137917
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
3523808
3573808
50001
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case45562
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
3114900
3150535
35636
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82503
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
3124057
3182357
58301
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1067-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
4195865
4328069
132205
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1067-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
4100153
4138402
38250
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
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11093.p1
8.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 76
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11132.p1
4.3
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11181.p1
6.3
M
ASD
NA
Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 101
3906365
3975960
69596
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11345.p1
6.1
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 120; verbal IQ, 100
3096136
3098043
1908
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11441.p1
7.8
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
4478479
4487061
8583
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11895.p1
7.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 79
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11963.p1
6.1
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 90; verbal IQ, 104
3677260
3687429
10170
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11990.p1
11.4
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
2111543
2209324
97782
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12029.p1
8.6
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
4316392
4491309
174918
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12051.p1
6.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 66; verbal IQ, 63
3168438
3225096
56659
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12097.p1
4.8
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 115; verbal IQ, 145
4365120
4373682
8563
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12334.p1
8.9
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
3990352
4097943
107592
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12339.p1
15.5
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
3405679
3433089
27411
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12739.p1
6.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
3094959
3118068
23110
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12757.p1
5.3
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
3353538
3385246
31709
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12782.p1
13.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 76; verbal IQ, 77
2636028
2664018
27991
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case253
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2768392
2907582
139191
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case254
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
2921740
3278367
356628
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case255
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
3469994
3578717
108724
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
bacchelli_20_ASD_discovery_controls-control20102
N/A
F
Control
Control
3808823
3898753
89931
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036018695_
N/A
N/A
Control
No previous psychiatric history
3520194
3565708
45515
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036024040_
N/A
N/A
Control
No previous psychiatric history
3532333
3608851
76519
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB351862_1007853886
N/A
N/A
Control
No previous psychiatric history
3127765
3294965
167201
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB473026_1007872207
N/A
N/A
Control
No previous psychiatric history
4253892
4363041
109150
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB501678_1007872289
N/A
N/A
Control
No previous psychiatric history
3042051
3866057
824007
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB582658_1007872312
N/A
N/A
Control
No previous psychiatric history
3481368
3516500
35133
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB592978_1007848517
N/A
N/A
Control
No previous psychiatric history
3420366
3476793
56428
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB631008_1007873717
N/A
N/A
Control
No previous psychiatric history
4253892
4368668
114777
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB910399_1007854748
N/A
N/A
Control
No previous psychiatric history
2290861
2410098
119238
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900034_900034
N/A
N/A
Control
No previous psychiatric history
4316392
4491309
174918
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900108_900108
N/A
N/A
Control
No previous psychiatric history
3520194
3565708
45515
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900131_900131
N/A
N/A
Control
No previous psychiatric history
3350381
3453958
103578
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900853_900853
N/A
N/A
Control
No previous psychiatric history
3118068
3174415
56348
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900933_900933
N/A
N/A
Control
No previous psychiatric history
3759948
3828409
68462
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901232_901232
N/A
N/A
Control
No previous psychiatric history
3778078
3810275
32198
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902517_902517
N/A
N/A
Control
No previous psychiatric history
4316392
4474175
157784
GRCh38
Duplication
No
kanduri_15_ASD_discovery_controls-control_split435
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
3611608
3618143
6536
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control11181.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
3950922
3974545
23624
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C28198
Control
2235743
2318118
82376
Unknown
Duplication
sanders_11_ASD_discovery_controls-11055.s1
11.3
F
Control (matched sibling)
NA
NA
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11181.s1
4.3
F
Control (matched sibling)
NA
NA
3906365
3984392
78028
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11379.s1
8.3
F
Control (matched sibling)
NA
NA
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11532.s1
13.5
F
Control (matched sibling)
NA
NA
3439800
3465599
25800
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11654.s1
6.3
F
Control (matched sibling)
NA
NA
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11740.s1
9.3
M
Control (matched sibling)
NA
NA
4462150
4468471
6322
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11810.s1
4.4
F
Control (matched sibling)
NA
NA
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11963.s1
6.1
F
Control (matched sibling)
NA
NA
3677260
3687429
10170
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12339.s1
12.9
F
Control (matched sibling)
NA
NA
3405679
3436084
30406
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12613.s1
12.6
M
Control (matched sibling)
NA
NA
3571283
3578511
7229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12619.s1
4.7
M
Control (matched sibling)
NA
NA
4278776
4298628
19853
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB240
qPCR, FISH
Maternal
CARD11,SDK1,CARD11-AS1,SDK1-AS1,RN7SKP130
bacchelli_20_ASD_discovery_cases-caseAB51
qPCR
Paternal
Simplex
SDK1
bacchelli_20_ASD_discovery_cases-caseAB56
Paternal
Simplex
SDK1
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
GNA12
cucinotta_23_ASD_discovery_cases-case324
Maternal
SDK1
engchuan_15_ASD_discovery_cases-case14012_220
Unknown
engchuan_15_ASD_discovery_cases-case14031_580
Unknown
TTYH3,AMZ1
engchuan_15_ASD_discovery_cases-case14050_870
Unknown
SDK1
engchuan_15_ASD_discovery_cases-case14420_5290
Unknown
engchuan_15_ASD_discovery_cases-case18133_302
Unknown
CHST12
engchuan_15_ASD_discovery_cases-case20024_1116001
Unknown
SDK1
engchuan_15_ASD_discovery_cases-case4154_1
Unknown
CHST12
engchuan_15_ASD_discovery_cases-case5068_3
Unknown
engchuan_15_ASD_discovery_cases-case5369_4
Unknown
engchuan_15_ASD_discovery_cases-case6137_5
Unknown
engchuan_15_ASD_discovery_cases-case6178_7
Unknown
AMZ1,GNA12
engchuan_15_ASD_discovery_cases-case6188_3
Unknown
SDK1
gai_11_ASD_discovery_cases-AU0979301
Inherited
IQCE, TTYH3, AMZ1, GNA12, CARD11
gai_11_ASD_discovery_cases-AU0979302
Inherited
IQCE, TTYH3, AMZ1, GNA12, CARD11
gai_11_ASD_discovery_cases-AU1352301
Inherited
SDK1 (intronic)
gai_11_ASD_discovery_cases-AU1352302
Inherited
SDK1 (intronic)
gai_11_ASD_discovery_cases-AU1466302
Inherited
SDK1 (intronic)
gai_11_ASD_replication_cases-AU055504
Inherited
NUDT1, SNX8, EIF3B, CHST12, LFNG, C7orf27, IQCE, TTYH3
gai_11_ASD_replication_cases-AU067703
Inherited
SDK1 (intronic)
girirajan_13a_ASD_discovery_cases-AU0979301
Unknown
Multiplex
Unknown
RN7SKP130,IQCE,TTYH3,AMZ1,GNA12,CARD11
han_22_ASD/DD/ID_discovery_cases-caseF73
Unknown
SDK1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000946
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MRM2,MIR6836,IMMP1LP3,NUDT1,SNX8,CHST12,EIF3B,MAD1L1
kanduri_15_ASD_discovery_cases-case1834
De novo
Unknown
Unknown
SDK1 (intronic)
krumm_13_ASD_discovery_cases-case12334.p1
Maternal
Simplex
Segregated
SDK1
krumm_15_ASD_discovery_cases-case11181.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SDK1
krumm_15_ASD_discovery_cases-case12334.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SDK1
krumm_15_ASD_discovery_cases-case13653.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
SDK1
marshall_08_ASD_discovery_cases-MM0088-003
qPCR, qmPCR
Unknown
NA
NA
marshall_08_ASD_discovery_cases-NA0147-000
qPCR, qmPCR
Unknown
NA
NA
SDK1
napoli_17_ASD_discovery_cases-case23
RT-PCR
Maternal
SDK1
nord_11_ASD_discovery_cases-212-1
Paternal
SDK1
pinto_10_ASD_discovery_cases-case5068_3
Agilent1M
maternal
Multiplex
NA
prasad_12_ASD_discovery_cases-case119974L
Unknown
Unknown
Unknown
SDK1
prasad_12_ASD_discovery_cases-case121815
Unknown
Unknown
Unknown
GNA12
prasad_12_ASD_discovery_cases-case137917
Unknown
Unknown
Unknown
SDK1
prasad_12_ASD_discovery_cases-case45562
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case82503
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1067-0
Not tested by qPCR
Unknown
Unknown
Unknown
SDK1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1067-0
Not tested by qPCR
Unknown
Unknown
Unknown
SDK1
sanders_11_ASD_discovery_cases-11030.p1
Paternal
Simplex (quad-proband matched)
Segregated
SDK1
sanders_11_ASD_discovery_cases-11093.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SDK1
sanders_11_ASD_discovery_cases-11132.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SDK1
sanders_11_ASD_discovery_cases-11181.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SDK1
sanders_11_ASD_discovery_cases-11345.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11441.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11895.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SDK1
sanders_11_ASD_discovery_cases-11963.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SDK1
sanders_11_ASD_discovery_cases-11990.p1
Unknown
Simplex (quad-proband matched)
Segregated
MAD1L1
sanders_11_ASD_discovery_cases-12029.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12051.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12097.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12334.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SDK1
sanders_11_ASD_discovery_cases-12339.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SDK1
sanders_11_ASD_discovery_cases-12739.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12757.p1
Maternal
Simplex (trio)
NA
SDK1
sanders_11_ASD_discovery_cases-12782.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TTYH3
yin_16_ASD_discovery_cases-case253
Unknown
Unknown
Unknown
AMZ1,GNA12,CARD11
yin_16_ASD_discovery_cases-case254
Unknown
Unknown
Unknown
RN7SKP130,CARD11
yin_16_ASD_discovery_cases-case255
Unknown
Unknown
Unknown
SDK1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control20102
Unknown
SDK1
engchuan_15_ASD_discovery_controls-control110036018695_
Unknown
SDK1
engchuan_15_ASD_discovery_controls-control110036024040_
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlB351862_1007853886
Unknown
engchuan_15_ASD_discovery_controls-controlB473026_1007872207
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlB501678_1007872289
Unknown
CARD11,SDK1
engchuan_15_ASD_discovery_controls-controlB582658_1007872312
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlB592978_1007848517
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlB631008_1007873717
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlB910399_1007854748
Unknown
SNX8,CHST12,EIF3B
engchuan_15_ASD_discovery_controls-controlHABC_900034_900034
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900108_900108
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlHABC_900131_900131
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlHABC_900853_900853
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900933_900933
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlHABC_901232_901232
Unknown
SDK1
engchuan_15_ASD_discovery_controls-controlHABC_902517_902517
Unknown
kanduri_15_ASD_discovery_controls-control_split435
Unknown
SDK1 (intronic)
krumm_15_ASD_discovery_controls-control11181.s1
Illumina 1M
Maternal
SDK1
nord_11_ASD_discovery_controls-04C28198
FTSJ2,NUDT1,MAD1L1,SNX8
sanders_11_ASD_discovery_controls-11055.s1
Maternal
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-11181.s1
Maternal
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-11379.s1
Maternal
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-11532.s1
Maternal
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-11654.s1
Maternal
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-11740.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11810.s1
Maternal
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-11963.s1
Paternal
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-12339.s1
Paternal
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-12613.s1
Unknown
Simplex (quad)
NA
SDK1
sanders_11_ASD_discovery_controls-12619.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available