18q12.1CNV Type: Deletion-Duplication
Largest CNV size: 4062000 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
Summary Information
A large ~4Mb duplication encompassing this region was recently detected in a 7-year-old female patient diagnosed with autistic disorder, mild intellectual disability, and additional phenotypes.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.
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
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
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-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder.
Deletion
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
144000
0
2
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
3449
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
381193
6
9
15
gabriele_17_DD/ID_discovery_cases
Individuals with deletions encompassing the YY1 gene identified within the DECIPHER database and an in-house database containing data from over 8,000 individuals with intellectual disability
13
Recurrent phenotypes of individuals with YY1 deletions included developmental delay, intellectual disability, intrauterine growth retardation, feeding problems, and dysmorphic features
N/A
N/A
1440699
0
1
1
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
38751
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
1848084
2
2
4
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
180579
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
80983
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
80983
1
3
4
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
1625484
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
216869
1
1
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
27802
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
47253
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
164485
2
3
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
170483
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
431904
20
2
22
wang_13_ASD_discovery_cases
Proband, who is one of a sibship of dizygotic twin girls born to non-consanguienous parents (both parents and the proband's dizygotic twin sister are neurologically unaffected), recruited through the Autism Spectrum Interdisciplinary Research (ASPIRE) Program of Autism Spectrum Disorders-Canadian-American Research Consortium (ASD-CARC).
1
Diagnosis of autistic disorder confirmed by ADOS-G and ADI-R and indicated by DSM-IV criteria.
8 yrs.
Female
4062000
0
1
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
93
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
2217260
4
5
9
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
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
78388
1
1
2
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
55821
1
0
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)
164485
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.
216344
11
2
13
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, 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
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
gabriele_17_DD/ID_discovery_cases
N/A
aCGH, array SNP
Agilent 44K, Agilent 60K, Agilent 400K, Affymetrix 250K NspI
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
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)
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
None
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
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
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
wang_13_ASD_discovery_cases
European (mother French-German, father German)
Array SNP
Affymetrix 2.7M
FISH
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
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
battaglia_13_DD/ID/ASD_discovery_cases-case63
14 yrs.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate-mild DD/ID
31894948
32013582
118635
GRCh38
Duplication
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case65
1 yr. 10 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
30202050
30346712
144663
GRCh38
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11091
NA
M
ASD
NA
NA
31336581
31340030
3450
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13203_2203
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31388408
31471714
83307
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)
30965604
31022802
57199
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16030_1571003001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32343256
32724449
381194
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16039_1571028001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
33281192
33350454
69263
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case17023_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
27860294
27950519
90226
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case17033_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31388408
31471714
83307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3309_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31388408
31471714
83307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3477_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34446298
34493550
47253
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case4137_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31388408
31469055
80648
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4304_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29709296
29769564
60269
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4383_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
32340467
32383345
42879
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6284_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31738266
31797335
59070
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6301_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31388408
31471714
83307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8484_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31388408
31471714
83307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8607_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28725722
28809702
83981
GRCh38
Deletion
No
gabriele_17_DD/ID_discovery_cases-case266323
N/A
N/A
Intellectual disability
Intrauterine growth retardation, microcephaly, hypotonia, feeding problems, malrotation, micropenis, hypoplastic scrotum, craniosynostosis, dysmorphic features
Intellectual disability
29444540
30885237
1440698
GRCh38
Duplication
gazzellone_14_ASD_discovery_cases-case517-3
6 yrs.
F
ASD
ASD; no other clinical information provided
N/A
32058686
32097437
38752
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002434
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31016495
31171928
155434
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002575
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29444510
31247986
1803477
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004142
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
34297872
34622367
324496
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005279
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
29879161
31727247
1848087
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case3076
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.
29374183
29554761
180579
Unknown
Duplication
No
krumm_13_ASD_discovery_cases-case12523.p1
N/A
M
ASD
ASD proband from SSC quad family 12523. SRS score of 49.
Full-scale IQ (FSIQ) score of 91.
31388366
31469349
80984
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11573.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31388366
31466754
78389
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12523.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31388366
31469349
80984
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13311.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31001617
31008525
6909
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13666.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
32065901
32129205
63305
GRCh38
Duplication
Yes
mahjani_21_ASD_discovery_cases-case206
NA
F
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
32969578
34595061
1625484
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0012-003
NA
M
ASD
NA
NA
31731071
31947939
216869
GRCh38
Duplication
Yes
marshall_08_ASD_discovery_cases-SK0303-003
NA
F
ASD
NA
NA
32549590
32614139
64550
GRCh38
Deletion
Yes
mosca_16_DCD_discovery_cases-case118703
N/A
F
DCD (with or without ADHD and/or RD)
Ancestry: unknown. Family history: maternal diagnosis unknown; paternal diagnosis unknown.
28546284
28574085
27802
GRCh38
Deletion
No
pinto_14_ASD_discovery_cases2-case3477_3
N/A
M
ASD
ASD (ASD on ADI-R, autism on ADOS), verbal; no cardiac defects; no neuromuscular deficits. Family history: N/A.
Low average IQ (WISC-R at 5 y 7 mo: VIQ 88, PIQ 88, FSIQ 86)
34446298
34493550
47253
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case58769L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
27545371
27709855
164485
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case58769L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
30777967
30822712
44746
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60980L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
27902091
27935104
33014
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case78391
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
28375850
28434244
58395
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case80186
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
25355324
25395735
40412
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1189-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: unknown.
Developmental delay: yes. Intellectual disability: unknown.
33538018
33708500
170483
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11202.p1
11.8
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ 71
28596485
28601429
4945
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
29894284
29906310
12027
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11494.p1
17.3
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
32989199
33104040
114842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11573.p1
8.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
31388408
31471714
83307
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11610.p1
7.3
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 138; verbal IQ, 99
33616177
33631295
15119
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11712.p1
5.5
M
ASD
NA
Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
33200410
33201020
611
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11723.p1
6.9
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
32799909
32845196
45288
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11792.p1
10.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
29637357
29642144
4788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11913.p1
4.5
F
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
32989199
33117098
127900
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
30235355
30236003
649
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11982.p1
9.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 78; verbal IQ, 86
31064875
31069249
4375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
29091998
29523901
431904
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12036.p1
9.6
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 54; verbal IQ, 48
32989199
33104040
114842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12252.p1
7.2
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 79; verbal IQ, 106
32980021
33151784
171764
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
32989199
33104040
114842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12287.p1
7.9
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 55; verbal IQ, 28
30574471
30583347
8877
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12512.p1
8.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 82; verbal IQ, 95
29637357
29642144
4788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12523.p1
6.1
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
31388408
31460006
71599
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
32989199
33036815
47617
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12741.p1
7.8
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 87; verbal IQ, 60
29637357
29642144
4788
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
32383345
32408288
24944
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
32989199
33201020
211822
GRCh38
Deletion
No
wang_13_ASD_discovery_cases-case1
8 yrs.
F
Autistic disorder
Diagnosis of autistic disorder at age of 2 years 11 months confirmed by ADOS-G and ADI-R and indicated by DSM-IV criteria. Birth/neonatal history: conception aided by ovulation induction; proband born at 37 weeks gestation by C-section, no concerns noted at birth. Developmental milestones: speech assessments at age of 2 years 8 months showed major expressive speech delay in addition to delays in reception, play, and gesture. Language and communication evaluation: significant deficits in verbal and non-verbal communication noted in association with poor eye contact and limited use of gestures and facial expression; case non-verbal upon most recent evaluation. Behavioral/psychiatric evaluation: stereotypic and repetitive behaviors observed (hand flapping and blinking). Epilepsy/seizures: recurrent focal seizures developed at 5 years of age, effectively treated with lamotrigine. EEG: normal (performed during wakefulness). Brain imaging: normal brain MRI. Ophthalmologic evaluation: mild myopia. Auditory evaluation: auditory brainstem response (ABR) testing performed at age of 2 years 6 months ruled out hearing loss. Other features: bilateral benign iris nevi. Dysmorphic features: none. Growth parameters: relatively short stature; weight 25th %ile, height 5th %ile, OFC 50th %ile. Karyotype: normal female karyotype observed prenatally. Family history: healthy dizygotic twin sister; born to healthy non-consanguineous parents; paternal half-cousin with Asperger syndrome harboring paternally-inherited 16p13.2 microduplication detected by CMA.
Mild intellectual disability; evidence of cognitive delays awaiting objective IQ testing; overall functioning at age of 8 years was equivalent to a 3-4-year-old.
30753736
34815318
4061583
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_controls-controlREACH000572
N/A
F
Control
Control from REACH cohort
30614291
30614384
94
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036019552_
N/A
N/A
Control
No previous psychiatric history
31388408
31471714
83307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036023638_
N/A
N/A
Control
No previous psychiatric history
30205205
30345131
139927
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
N/A
N/A
Control
No previous psychiatric history
28495623
28562092
66470
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB340331_1007844528
N/A
N/A
Control
No previous psychiatric history
32799909
32845196
45288
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB475222_1007872252
N/A
N/A
Control
No previous psychiatric history
28725722
28804325
78604
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB736147_1007871696
N/A
N/A
Control
No previous psychiatric history
29809578
29886212
76635
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB843300_1007874699
N/A
N/A
Control
No previous psychiatric history
28199559
30416817
2217259
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900402_900402
N/A
N/A
Control
No previous psychiatric history
31388408
31471714
83307
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902827_902827
N/A
N/A
Control
No previous psychiatric history
31388408
31461771
73364
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11573.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31388366
31466754
78389
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13311.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31001617
31008525
6909
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C27734A
N/A
F
Control
NIMH Control (NIMH ID 28812)
33293157
33348977
55821
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
32246624
32252184
5561
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11256.s1
14
M
Control (matched sibling)
NA
NA
29637357
29642144
4788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11573.s1
10.3
F
Control (matched sibling)
NA
NA
31388408
31467004
78597
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11917.s1
4.3
F
Control (matched sibling)
NA
NA
32390023
32393768
3746
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11918.s1
12.3
M
Control (matched sibling)
NA
NA
31750251
31759008
8758
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12154.s1
9.1
F
Control (matched sibling)
NA
NA
32616841
32626247
9407
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12252.s1
4.1
M
Control (matched sibling)
NA
NA
32984676
33201020
216345
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12512.s1
11.3
F
Control (matched sibling)
NA
NA
29637357
29642144
4788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12582.s1
9.2
M
Control (matched sibling)
NA
NA
32376511
32408288
31778
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12810.s1
13.7
F
Control (matched sibling)
NA
NA
32367954
32411107
43154
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13083.s1
9.8
F
Control (matched sibling)
NA
NA
31827094
31953319
126226
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13195.s1
10.1
M
Control (matched sibling)
NA
NA
32918334
32921761
3428
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
32989199
33104040
114842
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case63
FISH or qPCR
Maternal
Maternal
Possible multi-generational
Segregated
RNU6-1050P,PGDP1,TRAPPC8
battaglia_13_DD/ID/ASD_discovery_cases-case65
FISH or qPCR
Maternal
Maternal
Possible multi-generational
Segregated
MIR302F
celestino-soper_11_ASD_discovery_cases-11091
Unknown
Simplex
NA
DSG1
engchuan_15_ASD_discovery_cases-case13203_2203
Unknown
DSG1-AS1,DSG4,DSG3
engchuan_15_ASD_discovery_cases-case14050_870
Unknown
RNU6-857P,DSC3
engchuan_15_ASD_discovery_cases-case16030_1571003001
Unknown
HNRNPA1P7,WBP11P1,GAREM1,KLHL14
engchuan_15_ASD_discovery_cases-case16039_1571028001
Unknown
CCDC178
engchuan_15_ASD_discovery_cases-case17023_1
Unknown
engchuan_15_ASD_discovery_cases-case17033_1
Unknown
DSG1-AS1,DSG4,DSG3
engchuan_15_ASD_discovery_cases-case3309_3
Unknown
DSG1-AS1,DSG4,DSG3
engchuan_15_ASD_discovery_cases-case3477_3
De novo
DTNA
engchuan_15_ASD_discovery_cases-case4137_1
Unknown
DSG1-AS1,DSG4,DSG3
engchuan_15_ASD_discovery_cases-case4304_1
Unknown
engchuan_15_ASD_discovery_cases-case4383_1
Unknown
GAREM1
engchuan_15_ASD_discovery_cases-case6284_3
Unknown
SLC25A52
engchuan_15_ASD_discovery_cases-case6301_3
Unknown
DSG1-AS1,DSG4,DSG3
engchuan_15_ASD_discovery_cases-case8484_201
Unknown
DSG1-AS1,DSG4,DSG3
engchuan_15_ASD_discovery_cases-case8607_201
Unknown
gabriele_17_DD/ID_discovery_cases-case266323
Unknown
Unknown
MIR302F
gazzellone_14_ASD_discovery_cases-case517-3
Unknown
Unknown
Unknown
RNF125,RNF138
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002434
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DSC3,DSCAS,DSC1,DSC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002575
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR302F,RNU6-857P,DSC3,DSCAS,DSC1,DSC2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004142
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DTNA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005279
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MIR302F,RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,DSC2,DSG1,TTR,DSG3
kanduri_15_ASD_discovery_cases-case3076
Paternal
Unknown
Unknown
TRAPPC8
krumm_13_ASD_discovery_cases-case12523.p1
Paternal
Simplex
Segregated
DSG1-AS1,DSG4,DSG3
krumm_15_ASD_discovery_cases-case11573.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
DSG1-AS1,DSG4,DSG3
krumm_15_ASD_discovery_cases-case12523.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
DSG1-AS1,DSG4,DSG3
krumm_15_ASD_discovery_cases-case13311.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
DSC3
krumm_15_ASD_discovery_cases-case13666.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
RNF125,RNF138,GAREM1
mahjani_21_ASD_discovery_cases-case206
Unknown
DTNA,ASXL3,CCDC178,NOL4,ASXL3-DT
marshall_08_ASD_discovery_cases-SK0012-003
qPCR, qmPCR
Unknown
NA
NA
SLC25A52,RNU6-1050P,TRAPPC8
marshall_08_ASD_discovery_cases-SK0303-003
qPCR, qmPCR
Unknown
NA
NA
mosca_16_DCD_discovery_cases-case118703
Unknown
Unknown
Unknown
pinto_14_ASD_discovery_cases2-case3477_3
qPCR
De novo
Simplex
Segregated (absent in unaffected brother)
DTNA
prasad_12_ASD_discovery_cases-case58769L
Unknown
Unknown
Unknown
TRAPPC8,MCART2
prasad_12_ASD_discovery_cases-case58769L
Unknown
Unknown
Unknown
MAPRE2
prasad_12_ASD_discovery_cases-case60980L
Unknown
Unknown
Unknown
RNF138,RNF125
prasad_12_ASD_discovery_cases-case78391
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case80186
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1189-0
qPCR
Paternal
Unknown
Unknown
ASXL3
sanders_11_ASD_discovery_cases-11202.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11485.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11494.p1
Unknown
Simplex (quad-proband matched)
Segregated
CCDC178
sanders_11_ASD_discovery_cases-11573.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DSG1-AS1,DSG4,DSG3
sanders_11_ASD_discovery_cases-11610.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ASXL3
sanders_11_ASD_discovery_cases-11712.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC178
sanders_11_ASD_discovery_cases-11723.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11792.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11913.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC178
sanders_11_ASD_discovery_cases-11962.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11982.p1
Paternal
Simplex (quad-proband matched)
Not segregated
DSC2
sanders_11_ASD_discovery_cases-11996.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12036.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC178
sanders_11_ASD_discovery_cases-12252.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CCDC178
sanders_11_ASD_discovery_cases-12266.p1
Unknown
Simplex (trio)
NA
CCDC178
sanders_11_ASD_discovery_cases-12287.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12512.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12523.p1
Paternal
Simplex (quad-proband matched)
Segregated
DSG1-AS1,DSG4,DSG3
sanders_11_ASD_discovery_cases-12558.p1
Unknown
Simplex (trio)
NA
CCDC178
sanders_11_ASD_discovery_cases-12741.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12858.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GAREM1
sanders_11_ASD_discovery_cases-13019.p1
Unknown
Simplex (trio)
NA
CCDC178
wang_13_ASD_discovery_cases-case1
FISH
De novo
Simplex
Segregated
RNU6-857P,RNU6-167P,RN7SKP44,LRRC37A7P,SLC25A52,RNU6-1050P,PGDP1,RNA5SP453,CLUHP6,HNRNPA1P7,WBP11P1,DSC3,DSCAS,DSC1,DSG1-AS1,DSG4,DSG2,DSG2-AS1,B4GALT6,RNF125,MEP1B,DSC2,DSG1,TTR,TRAPPC8,RNF138,GAREM1,KLHL14,CCDC178,ASXL3,NOL4,DSG3,DTNA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlREACH000572
PCR
De novo
engchuan_15_ASD_discovery_controls-control110036019552_
Unknown
DSG1-AS1,DSG4,DSG3
engchuan_15_ASD_discovery_controls-control110036023638_
Unknown
MIR302F
engchuan_15_ASD_discovery_controls-controlB294025_1007842040
Unknown
engchuan_15_ASD_discovery_controls-controlB340331_1007844528
Unknown
engchuan_15_ASD_discovery_controls-controlB475222_1007872252
Unknown
engchuan_15_ASD_discovery_controls-controlB736147_1007871696
Unknown
engchuan_15_ASD_discovery_controls-controlB843300_1007874699
Unknown
ARIH2P1,RNU6-408P,MIR302F
engchuan_15_ASD_discovery_controls-controlHABC_900402_900402
Unknown
DSG1-AS1,DSG4,DSG3
engchuan_15_ASD_discovery_controls-controlHABC_902827_902827
Unknown
DSG1-AS1,DSG4,DSG3
krumm_15_ASD_discovery_controls-control11573.s1
Illumina 1MDuo
Maternal
DSG1-AS1,DSG4,DSG3
krumm_15_ASD_discovery_controls-control13311.s1
1M-Duov3
Maternal
DSC3
poultney_13_ASD_discovery_controls-control04C27734A
Unknown
CCDC178
sanders_11_ASD_discovery_controls-11135.s1
Maternal
Simplex (quad)
NA
GAREM1
sanders_11_ASD_discovery_controls-11256.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11573.s1
Maternal
Simplex (quad)
NA
DSG1-AS1,DSG4,DSG3
sanders_11_ASD_discovery_controls-11917.s1
Unknown
Simplex (quad)
NA
GAREM1
sanders_11_ASD_discovery_controls-11918.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12154.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12252.s1
Unknown
Simplex (quad)
NA
CCDC178
sanders_11_ASD_discovery_controls-12512.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12582.s1
Unknown
Simplex (quad)
NA
GAREM1
sanders_11_ASD_discovery_controls-12810.s1
Unknown
Simplex (quad)
NA
GAREM1
sanders_11_ASD_discovery_controls-13083.s1
Paternal
Simplex (quad)
NA
RNU6-1050P,TRAPPC8
sanders_11_ASD_discovery_controls-13195.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Unknown
Simplex (quad)
NA
CCDC178
No Animal Model Data Available