7p21.3CNV Type: Deletion-Duplication
Largest CNV size: 1269725 bp
Statistics Box:
Number of Reports: 30
Number of Reports: 30
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Microduplications in an autism multiplex family narrow the region of susceptibility for developmental disorders on 15q24 and implicate 7p21.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with Essential Autism Spectrum Disorders.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural di...
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion-Duplication
Copy number variation in Han Chinese 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.
Deletion-Duplication
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
63183
1
0
1
cukier_11_ASD_discovery_cases
2 autistic individuals from multiplex family 17122 (originally ascertained as part of the Collaborative Autism Project, which was described in Ma et al., 2009 ASD GWAS study)
2
1 diagnosed with autism, 1 diagnosed with ASD (DSM-IV and ADI-R criteria)
Male
348500
0
2
2
davis_09_ASD_discovery_cases
Autistic cases from Autism Genetic Research Exchange (AGRE)
36
ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
NA
NA
167680
1
0
1
doornbos_09_15q11.2_discovery_cases
Patients in two genetic centres (University Medical Centre Groningen & Leiden University Medical Centre, Netherlands)
1576
Patients originally referred for mental retardation and/or multiple congenital abnormalities; all patients with 15q11.2 microdeletion were clinically re-evaluated.
500000
0
1
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
413642
31
7
38
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
304966
0
2
2
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
413643
5
2
7
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
46308
1
1
2
girirajan_11_ASD_discovery_cases
ASD cases with sporadic autism from the Simons Simplex Collection (SSC)
336
Diagnosis of ASD based on meeting criteria on ADOS, ADI-R, and expert clinical judgment. 246 cases with no intellectual disability, 90 cases with intellectual disability. Exclusion criteria: significant hearing, vision, or motor problems; significant birth complications; a diagnosis of ASD-related disorders, such as Fragile X; or having a relative (up to 3rd degree) with ASD or sibling showing ASD-related symptoms.
258378
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1272342
1
4
5
girirajan_13b_ASD_discovery_cases
Children with autism 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 (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
307673
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
1608350
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1017984
4
2
6
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
101423
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
1268799
0
3
3
marcou_17_DD/ID_discovery_cases
Third child born to parents with unremarkable family history presenting with a de novo 11q13.2-q13.4 deletion that included the SHANK2 gene
1
Case presented with global developmental delay, intellectual disability, microcephaly, and dysmorphic features
12 yrs.
Female
39053
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
33800
0
1
1
napoli_17_ASD_discovery_cases
Children recruited between June 2009 and December 2014 at the Child Neuopsychiatry Unit of Bambino Gesu Children's Hospital, IRCCS, Rome, Italy
133
Inclusion criteria included a clinical diagnosis of pervasive developmental disorders (PDD) and of ASD, according to DSM-IV-TR and DSM-5 criteria, respectively, and fewer than six dysmorphic features (children with six or more minor anomalies and/or systemic congenital malformations, such as congenital heart defects, were excluded). Cognitive or developmental level was assessed by the brief intelligence quotient (IQ) from Leiter-R or by the general quotient (GQ) from Griffiths Mental Development Scales Extended Revised for age 2-8, GMDS-ER 2-8 (mean IQ, 73.7 24.3). The calibrated severity score (CSS) index was also calculated to quantify autism symptoms independently (median score of 7, r
Mean, 6.7 3.0 years
84.96% Male
322000
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
369000
1
1
2
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
1322845
0
1
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
104975
5
1
6
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
30638
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
278654
1
1
2
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
258183
6
3
9
salyakina_11_ASD_discovery_cases
ASD patients from extended ASD families (defined as families with at least two affected cousins)
97
ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
Range, 3-21 yrs.
352411
0
3
3
salyakina_11_nonASD_discovery_cases
Individuals from extended ASD families with ASD symptoms/autistic features, but who did not meet full criteria for ASD diagnosis
NA
Diagnosed with ASD symptoms, but did not meet full criteria for ASD diagnosis
352411
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
1269725
74
6
80
sato_12_ASD_discovery_cases_2
Three additional affected males from four-generation family with ASD/BAP
3
Two cases diagnosed with Asperger syndrome, 1 case with broader autism phenotype
Range, 5 yrs. 8 mos.-95 yrs.
100% Male
36451
1
0
1
schuch_19_ASD_discovery_cases
Childen of European descent diagnosed with idiopathic ASD
40
Cases diagnosed with ASD according to DSM-IV criteria: 55% with autistic disorder, 45% with PDD-NOS, 5% with Asperger syndrome.
Mean, 7.83 2.95 yrs.
90.00% Male
631000
0
1
1
wang_18_TS_replication_cases
Probands from 120 trio families not previously screened by whole-exome sequencing in the discovery cohort
120
Probands diagnosed with Tourette syndrome
N/A
N/A
60496
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
24654
2
1
3
yuan_23_ASD_discovery_cases
ASD probands from 353 pedigrees (338 simplex trios, 15 multiplex families) recruited from the Department of Child and Adolescent Psychiatry, Shanghai Mental Health Center (Shanghai, China).
369
Cases diagnosed with ASD using DSM-IV.
NA
NA
150255
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
476162
36
12
48
girirajan_11_ASD_discovery_controls
Control individuals ascertained by NIMH Genetics Initiative. DNA samples from these individuals were obtained from the Rutgers Univ. Cell & DNA Repository.
337
Control. Individuals screened specifically for eight mental health disorders.
258378
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
0
2
2
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
0
0
0
0
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1174651
0
1
1
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
101642
3
0
3
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
97480
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
431860
1
1
2
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
101423
0
1
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
848938
1
2
3
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.
21162
1
0
1
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)
68784
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)
258183
0
0
0
salyakina_11_ASD_discovery_controls
Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
838
Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
352411
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.
1086950
58
6
64
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
24654
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
cukier_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Human 1M Beadchip
PennCNV
qPCR
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
doornbos_09_15q11.2_discovery_cases
Dutch
aCGH, array SNP, MLPA
105K oligo array, Affymetrix 262K Nsp1
Feature Extraction V.9., CGH analytics V.3.4.27, CNAG version 2.3
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
qPCR
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
qPCR
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_11_ASD_discovery_cases
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 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
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
marcou_17_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix Cytoscan HD
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
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
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
salyakina_11_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
PennCNV
BeadStudio v3
qPCR
salyakina_11_nonASD_discovery_cases
Solid phase hybridization
Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
PennCNV
BeadStudio v3
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
sato_12_ASD_discovery_cases_2
Canadian
aCGH
Agilent SurePrint G3 Human CGH 1x1M
DNA Analytics, CBS/DNAcopy
None
schuch_19_ASD_discovery_cases
European
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.9.5.1, Agilent Cytogenomics v.2.7.8.0
None
wang_18_TS_replication_cases
N/A
Exome Array
Illumina HumanOmniExpressExome-8 v.1
PennCNV
Illumina GenomeStudio, PennCNV
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuan_23_ASD_discovery_cases
China
WES
Illumina HiSeq
NA
GATK v.4.2.0.0.
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_11_ASD_discovery_controls
aCGH
Custom microarray targeting 107 genomic hotspot regions (Roche NimbleGen Hotspot v1.0 array; 12 x 135K)
HMM
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
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
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
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)
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
salyakina_11_ASD_discovery_controls
727 Caucasian, 111 African-American
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
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
cucinotta_23_ASD_discovery_cases-case75
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
8464462
8527644
63183
GRCh38
Deletion
No
cukier_11_ASD_discovery_cases-case0100
NA
M
Autism
Walking at 18 months, first word at 40 months, phrase speech at 57 months. EEG findings of uncertain significance, but no clinical seizures. History of allergies, senosry problems, and hyperactivity. No dysmorphic features, head circumference in high normal range. First cousin of discovery case 0101.
Full scale IQ=46, Vineland adaptive behavior composite=55
8138059
8491275
353217
GRCh38
Duplication
Yes
cukier_11_ASD_discovery_cases-case0101
NA
M
ASD
Initially diagnosed with ADHD, depressive disorder, and a reading disability. Significant social problems & no inclination to interact with peers. Walking at 11 months, first words at 12 months, phrase speech at 24 months. Articulation and oral motor problems, awkward gait, overly acute hearing. First cousin of discovery case 0100.
Full scale IQ=99, Vineland adaptive behavior composite=65
8138059
8491275
353217
GRCh38
Duplication
Yes
davis_09_ASD_discovery_cases-AU008404
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: trigonocephaly
8854209
9021889
167680
Unknown
Deletion
No
doornbos_09_15q11.2_discovery_cases-case7
3 months
M
N/A
Heart defect. Normal growth parameters, normal psychomotor development, and no dysmorphic features at 3 months.
NA
8093845
8593845
500001
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case13010_123
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9088440
9190252
101813
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14140_2380
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12737683
13151325
413643
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14296_4170
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12150471
12201596
51126
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16055_1571004001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9088440
9190252
101813
GRCh38
Deletion
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)
12302313
12345765
43453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1948_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10514333
10590145
75813
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20039_1244001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13137221
13268061
130841
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20188_1727001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9743393
9808013
64621
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21023_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9088440
9190252
101813
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2300_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11685561
11735274
49714
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3140_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9088440
9192315
103876
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3381_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7547837
7599450
51614
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3429_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8785630
8819986
34357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4043_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8791468
8827920
36453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4182_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11687708
11720074
32367
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4207_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
7830416
7890220
59805
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4236_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11713402
11757275
43874
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4300_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8782204
8827920
45717
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4317_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8850654
8891331
40678
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4350_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11341831
11379660
37830
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5049_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12473176
12524502
51327
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5214_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8791468
8827920
36453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5227_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8791468
8837626
46159
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5241_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9085278
9190252
104975
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5293_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8860271
8922403
62133
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5407_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9088440
9190252
101813
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5442_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12311683
12404864
93182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5509_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8791468
8827920
36453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5546_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
12455033
12496710
41678
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6157_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8791468
8837626
46159
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6166_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8791004
8821522
30519
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6279_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8785630
8819986
34357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6374_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11514469
11566419
51951
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8152_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8139207
8482313
343107
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8439_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10472106
10625593
153488
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8451_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
8894987
8992665
97679
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8588_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10061906
10092543
30638
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8705_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
9051999
9089172
37174
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1081301
Autism
8165926
8460888
294963
Unknown
Duplication
Yes
gai_11_ASD_discovery_cases-AU1081302
Autism
8158107
8463072
304966
Unknown
Duplication
Yes
gai_11_ASD_replication_cases-AU003705
Autism
8146180
8494690
348511
Unknown
Duplication
Yes
gai_11_ASD_replication_cases-AU008404
Autism
9069088
9189993
120906
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU009703
Autism
9094766
9189993
95228
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU048703
Autism
7249542
7302819
53278
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU048704
Autism
7239965
7310242
70278
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU061404
Autism
11693860
11741426
47567
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU082104
Autism
12737683
13151325
413643
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case578-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
7913477
7959785
46309
GRCh38
Deletion
No
gazzellone_14_ASD_discovery_cases-case631-3
N/A
F
ASD
ASD; no other clinical information provided
N/A
9398080
9426312
28233
GRCh38
Duplication
No
girirajan_11_ASD_discovery_cases-Si12
7
M
Autism
ADOS score: 8. Vineland composite score: 87.
No mental retardation/intellectual disability. Full-scale IQ, 106; Verbal IQ, 99; Non-verbal IQ, 108.
8899030
9157408
258379
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-11398.p1
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
11161732
12434075
1272344
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14195.p1
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
8142620
8489117
346498
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14240.p1
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
8745725
8784938
39214
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-AU003705
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
8142620
8489117
346498
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1081301
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
8153064
8455318
302255
GRCh38
Duplication
Yes
girirajan_13b_ASD_discovery_cases-8103100683
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
N/A
8559235
8866908
307674
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001278
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10610069
11290160
680092
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001720
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10691723
11375132
683410
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004543
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10106458
11714808
1608351
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11398.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
11375793
12393778
1017986
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11939.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
12351572
12380733
29162
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12597.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
12351572
12375227
23656
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13527.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
12578063
12652715
74653
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14195.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
8127872
8435767
307896
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14252.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
7358632
7452387
93756
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case58
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
11642136
11743559
101424
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11049.p1
NA
M
ASD
NA
NA
12566370
12601667
35298
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11398.p1
NA
M
ASD
NA
NA
11164689
12433488
1268800
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11435.p1
NA
M
ASD
NA
NA
9557919
10041477
483559
GRCh38
Duplication
No
marcou_17_DD/ID_discovery_cases-case1
12 yrs.
F
Global developmental delay/intellectual disability
Birth/neonatal history: born to a 36-year-old, gravida three, para three mother via natural conception; pregnancy not complicated by maternal illness or exposure to known teratogens, although the mother did take birth control pills during the first trimester and an antidepressant medication throughout gestation; birth at 36-1/2 weeks gestation via spontaneous vaginal delivery; birth weight of 2814 g (5th %ile), length of 45.08 cm (5th %ile), and head circumference of 32 cm (25th %ile); postnatal complications included need for oxygen and resuscitation for first 5 minutes of life; no additional postnatal complications observed prior to release from hospital; normal newborn screening; weak cry and weak suck as an infant, resulting in feeding difficulties and failure to thrive (weight <5th %ile); microcephaly (head circumference fell from 25th %ile to <5th %ile), hypotonia, and global developmental delay noted at this time. Developmental milestones: global developmental delay; rolling from front to back at 7 months, unassisted sitting between 9-11 months, crawling at 1 year, began pulling to stand at 14 months, independent walking at 22 months, climbing stairs between 4-5 years; did not use words until 3-4 years, did not speak in complete sentences until 8 years; no developmental regression. Lanaguge and communication evaluation: severe language delay, receives speech therapy twice a week. Motor and musculoskeletal evaluation: hypotonia; hypermobility in the small joints of the hand, mild pectus excavatum, evidence of scoliosis, arachnodactyly, long and thin feet, long and slender figners, clinodactyly of both fifth fingers, mild pes planus, piezogenic apules. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: microcephaly, mild dolichocephaly, mild malar hypoplasia, mild retrognathia, fine hair, posterior hair whorl, prominent forehead, bilateral epicanthal folds, long palpebral fissures, deep-set eyes, low-set ears, petite ears, long ears with over-folding of the superior helix and with no tags or pits, broad nasal tip, depressed nasal bridge, small mouth, slight downturned corners of the mouth, widely spaced teeth. Growth parameters: height of 148.3 cm (19th %ile), weight of 36.1 kg (15th %ile), and head circumference of 50 cm (<3rd %ile) at 12 years. Family history: third child of parents; family history on both the maternal and paternal side is unremarkable with no documentation of any congenital anomalies or developmental delay; 48-year-old mother, 51-year-old father, and 23-year-old sister are healthy, 28-year-old brother was treated for testicular cancer at 21 years of age and a recurrence at 26 years of age.
Moderate-severe intellectual disability; case currently in 6th grade but performs work at 1st grade level.
8787315
8826367
39053
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0049-004
NA
M
ASD
NA
NA
11713633
11747433
33801
GRCh38
Duplication
Yes
napoli_17_ASD_discovery_cases-case9
N/A
M
ASD
Case diagnosed with ASD according to DSM-5 criteria. Congenital anomalies: none. Dysmorphic features: fewer than six. Karyotype: 46,XY
8158498
8480389
321892
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam1075Proband9210
N/A
F
ASD
Additional clinical profile info N/A
ID
11219171
11379043
159873
GRCh38
Deletion
No
nava_13_ASD_discovery_cases-Fam965Proband10740
N/A
M
ASD
Additional clinical profile info N/A
ID
8140216
8509428
369213
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case11398.p1
NA
M
ASD/Autism
No additional clinical info available.
High IQ. Non verbal IQ, 106
11111049
12433895
1322847
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case1948_301
NA
M
ASD
NA
NA
10514333
10590145
75813
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5214_3
NA
M
ASD
NA
NA
8791468
8827920
36453
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5227_4
NA
F
ASD
NA
NA
8791468
8837626
46159
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5241_3
NA
M
Autism
Average language (47%ile), no language delay, no epilepsy, right 2-3 toe syndactyly, right ear malformation
Low nonverbal IQ (9%ile)
9085278
9190252
104975
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5407_3
NA
M
ASD
NA
NA
9088440
9190252
101813
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5442_3
NA
M
ASD
NA
NA
12311683
12404864
93182
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case8588_201
N/A
M
ASD
Autism on ADI-R and ADOS, no language delay, hypotonia during childhood, sleep disorder, no epilepsy. Family history: father with socialization difficulties and rigidity; mother healthy; autistic traits in paternal uncle.
Average IQ (WISC-III at 14 y: VIQ 87, PIQ 78, FSIQ 81)
10061906
10092543
30638
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI3800A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1081301; NDAR ID NDAR_INVPU716GCV)
8157114
8435767
278654
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0591B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU015003; NDAR ID NDAR_INVXP603RMN)
7572474
7596463
23990
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case134413
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
8829693
8900485
70793
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case147230
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
10640688
10690460
49773
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case47010
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
12482258
12531333
49076
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case58294L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
8872668
8930010
57343
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60973L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
11720701
11763190
42490
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case68687
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
8504791
8762973
258183
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case68711
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
12323757
12411130
87374
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case70764
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
7257962
7288186
30225
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case91085L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
11279567
11315768
36202
Unknown
Deletion
No
salyakina_11_ASD_discovery_cases-17122_001
M
Autism
Abnormal EEGs. ADHD symptoms. Language delays, fine motor delay, low muscle tone/muscle weakness. Macrocephaly.
Moderate intellectual disability, learning disabilities.
8138739
8491150
352412
GRCh38
Duplication
Yes
salyakina_11_ASD_discovery_cases-17122_100
M
Autism
ADHD symptoms. Sensory deficits. Language delays, regression at 11 months.
8138739
8491150
352412
GRCh38
Duplication
Yes
salyakina_11_ASD_discovery_cases-17122_101
M
Autism
ADHD symptoms. Mood disorder not otherwise specified (NOS). Reading disorder. Mild oral motor and articulation delays. Awkward gait.
Learning disabilities.
8138739
8491150
352412
GRCh38
Duplication
Yes
salyakina_11_nonASD_discovery_cases-17122_1004
M
Mental retardation
ASD symptoms. Repetitive behaviors Nonverbal. Parkinson disease, dementia.
Mental retardation
8138739
8491150
352412
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11041.p1
13
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 39; verbal IQ, 60
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11048.p1
6.5
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 75; verbal IQ, 58
8791468
8827374
35907
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
12569834
12592460
22627
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11054.p1
13
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 83; verbal IQ, 84
12305080
12404864
99785
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11079.p1
11.8
M
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 48; verbal IQ, 63
11880920
11882199
1280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
9983183
10077142
93960
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11120.p1
15.9
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 104; verbal IQ, 128
8692957
8712047
19091
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
8791468
8833097
41630
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11172.p1
15.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 60; verbal IQ, 70
9497571
9502685
5115
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11190.p1
5.1
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
7809916
7813733
3818
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11203.p1
7.1
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 83; verbal IQ, 95
9058317
9063090
4774
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11212.p1
16.1
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
12603771
12604877
1107
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11214.p1
15.5
M
ASD
NA
Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
8791468
8827920
36453
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11225.p1
11.4
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 98; verbal IQ 120
11880920
11882199
1280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11249.p1
5.6
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ 74
8791004
8819986
28983
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11252.p1
6.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 96
11880920
11882199
1280
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
7260005
7262662
2658
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11310.p1
11
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 97; verbal IQ, 63
9512733
9533272
20540
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11360.p1
10.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
13069673
13208061
138389
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11368.p1
5.9
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
9000177
9128512
128336
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11398.p1
12.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
11164169
12433895
1269727
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11401.p1
7.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 98; verbal IQ, 93
8806073
8880357
74285
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11435.p1
17.7
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 63; verbal IQ, 70
9557434
10643904
1086471
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
8791468
8819986
28519
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
8791004
8819986
28983
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11508.p1
8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 83; verbal IQ, 75
13043870
13049522
5653
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11549.p1
12.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 36
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11592.p1
10.1
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 109; verbal IQ, 122
9088440
9192315
103876
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11660.p1
5
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
8791004
8827374
36371
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
11881179
11882686
1508
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
8785630
8827374
41745
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
10714596
10715083
488
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11808.p1
8.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
12984842
12991509
6668
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11878.p1
9.5
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 72; verbal IQ, 94
10755230
10758865
3636
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11893.p1
8.3
F
Autism
NA
Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
11881179
11882686
1508
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11939.p1
7.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
12350560
12381490
30931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
9497571
9502685
5115
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12011.p1
7.9
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
8891331
8916763
25433
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12014.p1
6.3
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
8791004
8827920
36917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12028.p1
9.3
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
8791004
8827920
36917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
8791004
8827374
36371
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12060.p1
8.5
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 115
9310755
9312619
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
9018053
9029833
11781
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12071.p1
11.7
F
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 102; verbal IQ, 112
12229042
12344463
115422
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12118.p1
12.6
F
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
10755230
10758865
3636
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
10638674
10755438
116765
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
11880920
11882686
1767
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
8959451
8960107
657
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12224.p1
4.3
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 85; verbal IQ, 78
12504039
12508291
4253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
12984842
12988070
3229
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12231.p1
8.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 77; verbal IQ, 43
10509083
10580604
71522
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12233.p1
5.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
8916763
9157478
240716
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12296.p1
15.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 88; verbal IQ, 52
9088440
9193298
104859
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12310.p1
9.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 71; verbal IQ, 35
8791004
8827920
36917
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
8791004
8833097
42094
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12340.p1
15.5
F
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 19
8791004
8827374
36371
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
13112537
13143908
31372
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12476.p1
8.1
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
11880920
11882686
1767
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12483.p1
15.5
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 92; verbal IQ, 102
11881179
11882686
1508
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12510.p1
7.3
M
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12558.p1
10.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 95; verbal IQ, 51
13032361
13041345
8985
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12581.p1
12.4
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12591.p1
4.7
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
9027190
9087543
60354
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
12350560
12381490
30931
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
8791004
8821522
30519
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12619.p1
7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 87; verbal IQ, 87
8791004
8821522
30519
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12652.p1
8.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 79; verbal IQ, 69
8785630
8833097
47468
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
11705982
11735060
29079
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
9792962
9808013
15052
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
11881179
11882686
1508
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12867.p1
16.7
F
ASD
NA
Full-scale IQ, 60; non-verbal IQ, 63; verbal IQ, 57
10755230
10758865
3636
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12894.p1
6.8
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
11881179
11882686
1508
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12925.p1
13.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 101; verbal IQ, 136
8791004
8827374
36371
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13014.p1
16.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
9087543
9194357
106815
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
10497229
10641036
143808
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13051.p1
6.9
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 105; verbal IQ, 104
10755230
10758865
3636
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13070.p1
8.9
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ, 85
12504039
12508291
4253
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13144.p1
6.5
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 119; verbal IQ, 95
8791004
8836876
45873
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
13065384
13084531
19148
GRCh38
Deletion
No
sato_12_ASD_discovery_cases_2-family1caseIV-3
5 yrs. 8 mos.
M
Asperger
Diagnosis of Asperger syndrome; positive for autism on ADI-R and ASD on the ADOS. Developmental milestones: not talking at 18 months, developed single words at 24 months. Language and communication evaluation: expressive language consisted of short sentences and phrases, some echoed speech, and mild articulation difficulties; Oral and Written Language Scales (OWLS) total language score of 80 (9th %ile), receptive language score of 78 (7th %ile), and expressive language score of 86 (18th %ile); Peabody Picture Vocabulary Test (PPVT) 4th edition receptive vocabulary score of 91 (27th %ile). Behavioral/psychiatric evaluation: exhibition of repetitive behaviors; failure to offer comfort or empathy; failure to initiate social interaction, although did play with parents; had made good progress in social interaction at 5 years 8 months of age. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: brother with ASD/Asperger disorder; mother with diagnosis of anxiety disorder and generalized anxiety disorder (no ASD or BAP); maternal uncle with Asperger disorder; great-grandfather with BAP.
Wechsler Preschool and Primary Scale of Intelligence (WPPSI): full-scale IQ of 89 (23rd %ile, low average range); verbal Iqof 89 (23rd %ile); performance IQ of 91 (27th %ile). Adaptive behavior scores (as determined by Vineland Adaptive Behavior Scales/VABS-II): adaptive behavior composite score of 86 (18th %ile); communication score of 91 (27th %ile); daily living skills score of 89 (23rd %ile); socialization score of 85 (16th %ile); motor score of 91 (27th %ile).
8787488
8823938
36451
GRCh38
Deletion
No
schuch_19_ASD_discovery_cases-case6
N/A
M
ASD
PDD-NOS, aggression, mood instability, echolalia, repetitive movements, sleep disturbance.
8027150
8677912
650763
GRCh38
Duplication
No
wang_18_TS_replication_cases-case9345411116_R01C01
N/A
N/A
Tourette syndrome
No additional clinical information available
8364518
8425013
60496
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case256
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
11329778
11335067
5290
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case257
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
11559829
11584482
24654
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case258
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
12556990
12580115
23126
GRCh38
Duplication
No
yuan_23_ASD_discovery_cases-qma01239s000
NA
NA
ASD
Case diagnosed with ASD according to DSM-IV criteria.
7489140
7639394
150255
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036009330_
N/A
N/A
Control
No previous psychiatric history
10497229
10578162
80934
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036013944_
N/A
N/A
Control
No previous psychiatric history
9176963
9418865
241903
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036017044_
N/A
N/A
Control
No previous psychiatric history
12009460
12044755
35296
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036021848_
N/A
N/A
Control
No previous psychiatric history
11237786
11309811
72026
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB102147_1007853660
N/A
N/A
Control
No previous psychiatric history
10514333
10578162
63830
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB246221_1007853829
N/A
N/A
Control
No previous psychiatric history
8791468
8827920
36453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
N/A
N/A
Control
No previous psychiatric history
9088440
9190252
101813
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB326966_1007875802
N/A
N/A
Control
No previous psychiatric history
13179137
13238323
59187
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB346627_1007872552
N/A
N/A
Control
No previous psychiatric history
10057603
10093138
35536
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB425239_1007874952
N/A
N/A
Control
No previous psychiatric history
12317803
12404864
87062
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB438744_1007854063
N/A
N/A
Control
No previous psychiatric history
8916763
9154168
237406
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB467855_1007853980
N/A
N/A
Control
No previous psychiatric history
12741918
12796051
54134
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB497980_1007852882
N/A
N/A
Control
No previous psychiatric history
8791468
8827920
36453
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB538534_1007854364
N/A
N/A
Control
No previous psychiatric history
9088440
9190252
101813
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB566219_1007852909
N/A
N/A
Control
No previous psychiatric history
10497229
10607435
110207
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB582658_1007872312
N/A
N/A
Control
No previous psychiatric history
8791468
8833097
41630
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB582969_1007853926
N/A
N/A
Control
No previous psychiatric history
9088440
9190252
101813
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB624968_1007846463
N/A
N/A
Control
No previous psychiatric history
10379227
10462600
83374
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB726886_0067942660
N/A
N/A
Control
No previous psychiatric history
10514333
10578162
63830
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB746394_1007874345
N/A
N/A
Control
No previous psychiatric history
9700008
9761375
61368
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB749190_1007844487
N/A
N/A
Control
No previous psychiatric history
9640892
9849658
208767
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB752269_1007854332
N/A
N/A
Control
No previous psychiatric history
13069673
13202725
133053
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB788578_1007846129
N/A
N/A
Control
No previous psychiatric history
8868217
8956064
87848
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB815347_1007872302
N/A
N/A
Control
No previous psychiatric history
8782783
8819986
37204
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB816843_1007852642
N/A
N/A
Control
No previous psychiatric history
12601577
12648146
46570
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB817828_0057061026
N/A
N/A
Control
No previous psychiatric history
8140025
8485077
345053
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB922778_1007844459
N/A
N/A
Control
No previous psychiatric history
8785630
8819986
34357
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB966792_1007842353
N/A
N/A
Control
No previous psychiatric history
8761340
8819986
58647
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB975886_1007854099
N/A
N/A
Control
No previous psychiatric history
9705895
9761375
55481
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900038_900038
N/A
N/A
Control
No previous psychiatric history
8806073
8870402
64330
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900041_900041
N/A
N/A
Control
No previous psychiatric history
10680703
10724457
43755
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900115_900115
N/A
N/A
Control
No previous psychiatric history
12146586
12181135
34550
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
N/A
N/A
Control
No previous psychiatric history
7888571
7949789
61219
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900202_900202
N/A
N/A
Control
No previous psychiatric history
7252827
7285169
32343
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900310_900310
N/A
N/A
Control
No previous psychiatric history
8791004
8821522
30519
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900330_900330
N/A
N/A
Control
No previous psychiatric history
8791004
8821522
30519
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900375_900375
N/A
N/A
Control
No previous psychiatric history
11275666
11311477
35812
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900375_900375
N/A
N/A
Control
No previous psychiatric history
10779920
11256082
476163
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900532_900532
N/A
N/A
Control
No previous psychiatric history
8139207
8492874
353668
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900616_900616
N/A
N/A
Control
No previous psychiatric history
11174613
11278097
103485
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900893_900893
N/A
N/A
Control
No previous psychiatric history
8791004
8821522
30519
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900937_900937
N/A
N/A
Control
No previous psychiatric history
8313583
8351485
37903
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900940_900940
N/A
N/A
Control
No previous psychiatric history
12601577
12669373
67797
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901067_901067
N/A
N/A
Control
No previous psychiatric history
7474700
7559523
84824
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901096_901096
N/A
N/A
Control
No previous psychiatric history
8791004
8821522
30519
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902882_902882
N/A
N/A
Control
No previous psychiatric history
11211201
11355224
144024
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902882_902882
N/A
N/A
Control
No previous psychiatric history
7865662
8020426
154765
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902892_902892
N/A
N/A
Control
No previous psychiatric history
13178426
13238323
59898
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control47
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
girirajan_13a_ASD_discovery_controls2-control48
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Duplication
No
guo_17_ASD_discovery_controls-controlPY1181
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
9743393
10918045
1174653
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_controls-control_split1502
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
9128241
9229882
101642
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1567
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
13190921
13211495
20575
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split365
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
9128241
9229882
101642
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control13335.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13335. SRS score of 36.
7358632
7456112
97481
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control12369.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
8003907
8435767
431861
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12597.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
12351572
12380733
29162
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11435.s1
NA
M
Control
NA
NA
9557919
10041477
483559
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12369.s1
NA
F
Control
NA
NA
7738284
8587222
848939
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12674.s1
NA
F
Control
NA
NA
11695546
11818792
123247
GRCh38
Deletion
No
nord_11_ASD_discovery_controls-04C27429
Control
9411417
9432578
21162
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C41827
N/A
F
Control
NIMH Control (NIMH ID 49525)
11474334
11543117
68784
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11027.s1
5.8
M
Control (matched sibling)
NA
NA
8791468
8827920
36453
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11041.s1
15.7
M
Control (matched sibling)
NA
NA
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11054.s1
10.5
M
Control (matched sibling)
NA
NA
12305080
12419003
113924
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
8791468
8833097
41630
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
9495166
9502685
7520
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11187.s1
11.1
F
Control (matched sibling)
NA
NA
12741918
12812499
70582
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11198.s1
8.8
F
Control (matched sibling)
NA
NA
8791468
8834783
43316
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11214.s1
17.2
F
Control (matched sibling)
NA
NA
8791468
8827920
36453
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11258.s1
10.8
F
Control (matched sibling)
NA
NA
8916763
9157478
240716
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11274.s1
9.1
M
Control (matched sibling)
NA
NA
12982080
12988070
5991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11275.s1
15.8
F
Control (matched sibling)
NA
NA
7243386
7292690
49305
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11299.s1
4.3
M
Control (matched sibling)
NA
NA
8791468
8827374
35907
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11310.s1
9.5
F
Control (matched sibling)
NA
NA
9512733
9533272
20540
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11316.s1
13.3
F
Control (matched sibling)
NA
NA
8647079
8653341
6263
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11368.s1
8.1
F
Control (matched sibling)
NA
NA
9000177
9128512
128336
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11401.s1
12.2
F
Control (matched sibling)
NA
NA
8804818
8870402
65585
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11425.s1
5.5
F
Control (matched sibling)
NA
NA
10514333
10580604
66272
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11435.s1
23.3
M
Control (matched sibling)
NA
NA
9556951
10643904
1086954
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11440.s1
12.5
F
Control (matched sibling)
NA
NA
8791468
8827920
36453
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11466.s1
7.3
F
Control (matched sibling)
NA
NA
8791468
8819986
28519
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11490.s1
9.8
F
Control (matched sibling)
NA
NA
10755230
10758865
3636
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11494.s1
19.3
M
Control (matched sibling)
NA
NA
8791004
8821522
30519
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11509.s1
20.3
M
Control (matched sibling)
NA
NA
9085692
9193298
107607
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11543.s1
18.1
F
Control (matched sibling)
NA
NA
8791004
8827374
36371
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
7808456
7813733
5278
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11592.s1
8
F
Control (matched sibling)
NA
NA
9088440
9193298
104859
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11657.s1
8.2
F
Control (matched sibling)
NA
NA
9767422
9868098
100677
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11685.s1
7.8
M
Control (matched sibling)
NA
NA
8868217
8889522
21306
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
8791004
8827374
36371
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11792.s1
8.6
M
Control (matched sibling)
NA
NA
11881179
11882686
1508
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12011.s1
10
M
Control (matched sibling)
NA
NA
8891331
8916763
25433
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12014.s1
4.3
M
Control (matched sibling)
NA
NA
8791004
8827920
36917
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
9310755
9312619
1865
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12061.s1
8.4
M
Control (matched sibling)
NA
NA
9018053
9029833
11781
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12071.s1
19.6
M
Control (matched sibling)
NA
NA
12229042
12343011
113970
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12130.s1
8.4
M
Control (matched sibling)
NA
NA
10638674
10755438
116765
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12173.s1
4.1
M
Control (matched sibling)
NA
NA
8791004
8821522
30519
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
11880920
11882686
1767
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12197.s1
5.8
F
Control (matched sibling)
NA
NA
8959451
8960107
657
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12201.s1
12.1
M
Control (matched sibling)
NA
NA
12603771
12604877
1107
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12225.s1
16.4
M
Control (matched sibling)
NA
NA
12984842
12988070
3229
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12252.s1
4.1
M
Control (matched sibling)
NA
NA
11732890
11738142
5253
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12296.s1
13.9
M
Control (matched sibling)
NA
NA
9088440
9194357
105918
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12299.s1
9.7
F
Control (matched sibling)
NA
NA
8959451
8960107
657
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12320.s1
23.3
F
Control (matched sibling)
NA
NA
12977416
12988070
10655
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12340.s1
10.3
F
Control (matched sibling)
NA
NA
8791004
8833097
42094
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12369.s1
4.2
F
Control (matched sibling)
NA
NA
7738344
8584084
845741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12403.s1
9.7
F
Control (matched sibling)
NA
NA
13112537
13143908
31372
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12510.s1
4.1
M
Control (matched sibling)
NA
NA
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12597.s1
5.3
F
Control (matched sibling)
NA
NA
12350560
12381490
30931
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12603.s1
11.7
M
Control (matched sibling)
NA
NA
8791004
8834783
43780
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12644.s1
8.1
M
Control (matched sibling)
NA
NA
11862186
11935931
73746
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12645.s1
11.3
M
Control (matched sibling)
NA
NA
10755230
10758865
3636
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
11698264
11818094
119831
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-12739.s1
4.1
M
Control (matched sibling)
NA
NA
11705982
11729684
23703
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12817.s1
15.7
F
Control (matched sibling)
NA
NA
11881179
11882686
1508
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12894.s1
4.9
F
Control (matched sibling)
NA
NA
11881179
11882686
1508
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12921.s1
6.5
F
Control (matched sibling)
NA
NA
12982080
12988070
5991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12925.s1
14.8
F
Control (matched sibling)
NA
NA
8785630
8837626
51997
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13051.s1
9.4
F
Control (matched sibling)
NA
NA
10755230
10758865
3636
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13070.s1
11.6
M
Control (matched sibling)
NA
NA
12504039
12508291
4253
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
13065384
13084531
19148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13193.s1
11.3
M
Control (matched sibling)
NA
NA
8959451
8960107
657
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cucinotta_23_ASD_discovery_cases-case75
Maternal
NXPH1
cukier_11_ASD_discovery_cases-case0100
qPCR
Maternal
Multiplex
Unknown
ICA1,NXPH1
cukier_11_ASD_discovery_cases-case0101
qPCR
Maternal
Simplex
NA
ICA1,NXPH1
davis_09_ASD_discovery_cases-AU008404
Unknown
Unknown
Unknown
0 genes
doornbos_09_15q11.2_discovery_cases-case7
Paternal
NA
NA
GLCCI1,ICA1,NXPH1
engchuan_15_ASD_discovery_cases-case13010_123
Unknown
engchuan_15_ASD_discovery_cases-case14140_2380
Unknown
RN7SKP228,RBMX2P4
engchuan_15_ASD_discovery_cases-case14296_4170
Unknown
engchuan_15_ASD_discovery_cases-case16055_1571004001
Unknown
engchuan_15_ASD_discovery_cases-case17033_1
Unknown
VWDE
engchuan_15_ASD_discovery_cases-case1948_301
Unknown
engchuan_15_ASD_discovery_cases-case20039_1244001
Unknown
engchuan_15_ASD_discovery_cases-case20188_1727001
Unknown
engchuan_15_ASD_discovery_cases-case21023_1
Unknown
engchuan_15_ASD_discovery_cases-case2300_1
Unknown
THSD7A
engchuan_15_ASD_discovery_cases-case3140_3
Unknown
engchuan_15_ASD_discovery_cases-case3381_3
Unknown
MIOS
engchuan_15_ASD_discovery_cases-case3429_3
Unknown
engchuan_15_ASD_discovery_cases-case4043_1
Unknown
engchuan_15_ASD_discovery_cases-case4182_1
Unknown
THSD7A
engchuan_15_ASD_discovery_cases-case4207_1
Unknown
UMAD1
engchuan_15_ASD_discovery_cases-case4236_1
Unknown
THSD7A
engchuan_15_ASD_discovery_cases-case4300_1
Unknown
engchuan_15_ASD_discovery_cases-case4317_1
Unknown
engchuan_15_ASD_discovery_cases-case4350_1
Unknown
THSD7A
engchuan_15_ASD_discovery_cases-case5049_5
Unknown
TAS2R2P
engchuan_15_ASD_discovery_cases-case5214_3
Unknown
engchuan_15_ASD_discovery_cases-case5227_4
Unknown
engchuan_15_ASD_discovery_cases-case5241_3
Unknown
engchuan_15_ASD_discovery_cases-case5293_5
Unknown
engchuan_15_ASD_discovery_cases-case5407_3
Unknown
engchuan_15_ASD_discovery_cases-case5442_3
Unknown
VWDE
engchuan_15_ASD_discovery_cases-case5509_3
Unknown
engchuan_15_ASD_discovery_cases-case5546_4
Unknown
TAS2R2P
engchuan_15_ASD_discovery_cases-case6157_3
Unknown
engchuan_15_ASD_discovery_cases-case6166_3
Unknown
engchuan_15_ASD_discovery_cases-case6279_3
Unknown
engchuan_15_ASD_discovery_cases-case6374_6
Unknown
THSD7A
engchuan_15_ASD_discovery_cases-case8152_201
Unknown
ICA1,NXPH1
engchuan_15_ASD_discovery_cases-case8439_202
Unknown
engchuan_15_ASD_discovery_cases-case8451_201
Unknown
engchuan_15_ASD_discovery_cases-case8588_201
Unknown
engchuan_15_ASD_discovery_cases-case8705_201
Unknown
gai_11_ASD_discovery_cases-AU1081301
qPCR
Inherited
ICA1, NXPH1
gai_11_ASD_discovery_cases-AU1081302
qPCR
Inherited
ICA1, NXPH1
gai_11_ASD_replication_cases-AU003705
qPCR
Inherited
ICA1, NXPH1
gai_11_ASD_replication_cases-AU008404
Inherited
0 genes
gai_11_ASD_replication_cases-AU009703
Inherited
0 genes
gai_11_ASD_replication_cases-AU048703
Inherited
C1GALT1
gai_11_ASD_replication_cases-AU048704
Inherited
C1GALT1
gai_11_ASD_replication_cases-AU061404
Inherited
THSD7A
gai_11_ASD_replication_cases-AU082104
Inherited
RN7SKP228,RBMX2P4
gazzellone_14_ASD_discovery_cases-case578-3
Unknown
Unknown
Unknown
UMAD1
gazzellone_14_ASD_discovery_cases-case631-3
Unknown
Unknown
Unknown
girirajan_11_ASD_discovery_cases-Si12
Unknown
Simplex
girirajan_13a_ASD_discovery_cases-11398.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
NPM1P11,TMEM106B,VWDE,PHF14,THSD7A
girirajan_13a_ASD_discovery_cases-14195.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
ICA1,NXPH1
girirajan_13a_ASD_discovery_cases-14240.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
NXPH1
girirajan_13a_ASD_discovery_cases-AU003705
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
ICA1,NXPH1
girirajan_13a_ASD_discovery_cases-AU1081301
aCGH (NimbleGen 135K array)
Paternal
Multiplex
Unknown
ICA1,NXPH1
girirajan_13b_ASD_discovery_cases-8103100683
Unknown
Unknown
Unknown
NXPH1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001278
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NDUFA4,RPL23AP52,NPM1P11,PHF14
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001720
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NDUFA4,RPL23AP52,NPM1P11,PHF14,THSD7A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004543
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
NDUFA4,RPL23AP52,NPM1P11,HSPA8P8,PHF14,THSD7A
krumm_15_ASD_discovery_cases-case11398.p1
Illumina 1M
Paternal
Simplex
Segregated
TMEM106B,VWDE,THSD7A
krumm_15_ASD_discovery_cases-case11939.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
VWDE
krumm_15_ASD_discovery_cases-case12597.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
VWDE
krumm_15_ASD_discovery_cases-case13527.p1
1M-Duov3
Maternal
Simplex
Segregated
SCIN
krumm_15_ASD_discovery_cases-case14195.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
ICA1,NXPH1
krumm_15_ASD_discovery_cases-case14252.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
COL28A1
larson_17_ASD_discovery_cases-case58
Unknown
Unknown
THSD7A
levy_11_ASD_discovery_cases-11049.p1
Paternal
Simplex
Segregated
SCIN
levy_11_ASD_discovery_cases-11398.p1
Paternal
Simplex
Segregated
NPM1P11,TMEM106B,VWDE,PHF14,THSD7A
levy_11_ASD_discovery_cases-11435.p1
Maternal
Simplex
Not segregated
GAPDHP68,PER4
marcou_17_DD/ID_discovery_cases-case1
Unknown
Simplex
Unknown
marshall_08_ASD_discovery_cases-SK0049-004
qPCR, qmPCR
Unknown
NA
NA
THSD7A
napoli_17_ASD_discovery_cases-case9
RT-PCR
Unknown
ICA1,NXPH1
nava_13_ASD_discovery_cases-Fam1075Proband9210
Maternal
Simplex
Unknown
NPM1P11,THSD7A
nava_13_ASD_discovery_cases-Fam965Proband10740
Maternal
Simplex
Unknown
ICA1,NXPH1
o'roak_12_ASD_discovery_cases-case11398.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
NPM1P11,TMEM106B,VWDE,PHF14,THSD7A
pinto_10_ASD_discovery_cases-case1948_301
Illumina550
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5214_3
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5227_4
Agilent1M
paternal
NA
NA
pinto_10_ASD_discovery_cases-case5241_3
Agilent1M
paternal
Multiplex
NA
pinto_10_ASD_discovery_cases-case5407_3
Agilent1M
maternal
NA
NA
pinto_10_ASD_discovery_cases-case5442_3
Agilent1M
maternal
NA
NA
VWDE
pinto_14_ASD_discovery_cases2-case8588_201
qPCR
Possibly paternal
Paternal
Unknown
Unknown (no siblings)
poultney_13_ASD_discovery_cases-case05HI3800A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ICA1,NXPH1
poultney_13_ASD_discovery_cases-case98HI0591B
qPCR
Unknown
Unknown (likely multiplex/AGRE)
Unknown
MIOS
prasad_12_ASD_discovery_cases-case134413
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case147230
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47010
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case58294L
Unknown
Simplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60973L
Unknown
Multiplex
Unknown
THSD7A
prasad_12_ASD_discovery_cases-case68687
qPCR
Maternal
Unknown
Unknown
NXPH1
prasad_12_ASD_discovery_cases-case68711
Unknown
Unknown
Unknown
VWDE
prasad_12_ASD_discovery_cases-case70764
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case91085L
Unknown
Unknown
Unknown
0 genes
salyakina_11_ASD_discovery_cases-17122_001
qPCR
Maternal
Multiplex
Segregated
ICA1,NXPH1
salyakina_11_ASD_discovery_cases-17122_100
qPCR
Maternal
Multiplex
Segregated
ICA1,NXPH1
salyakina_11_ASD_discovery_cases-17122_101
qPCR
Maternal
Simplex
Segregated
ICA1,NXPH1
salyakina_11_nonASD_discovery_cases-17122_1004
qPCR
Unknown
Simplex
Not segregated
ICA1,NXPH1
sanders_11_ASD_discovery_cases-11041.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11048.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11049.p1
Paternal
Simplex (quad-proband matched)
Segregated
SCIN
sanders_11_ASD_discovery_cases-11054.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VWDE
sanders_11_ASD_discovery_cases-11079.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11088.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11120.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NXPH1
sanders_11_ASD_discovery_cases-11172.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11172.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11190.p1
Paternal
Simplex (quad-proband matched)
Not segregated
UMAD1
sanders_11_ASD_discovery_cases-11203.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11212.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SCIN
sanders_11_ASD_discovery_cases-11214.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11225.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11249.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11252.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11301.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11310.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11360.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11368.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11398.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NPM1P11,TMEM106B,VWDE,PHF14,THSD7A
sanders_11_ASD_discovery_cases-11401.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11435.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GAPDHP68,PER4,HSPA8P8
sanders_11_ASD_discovery_cases-11466.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11494.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11508.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11549.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11592.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11660.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11734.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11734.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11734.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11808.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11878.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11893.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VWDE
sanders_11_ASD_discovery_cases-11941.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12011.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12014.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12028.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12044.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12060.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12061.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12071.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TMEM106B,VWDE
sanders_11_ASD_discovery_cases-12118.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12130.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12175.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12197.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12224.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12225.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12231.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12296.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12310.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12330.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12340.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12403.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12476.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12483.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12510.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12558.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12581.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12591.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12597.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VWDE
sanders_11_ASD_discovery_cases-12603.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12619.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12652.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12739.p1
Maternal
Simplex (quad-proband matched)
Not segregated
THSD7A
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12817.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12867.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12894.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12925.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13014.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13039.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13051.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13070.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13144.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13183.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sato_12_ASD_discovery_cases_2-family1caseIV-3
Possibly maternal
Unknown
Multiplex (brother with Asperger)
Unknown
schuch_19_ASD_discovery_cases-case6
Unknown
Unknown
Unknown
GLCCI1,ICA1,NXPH1
wang_18_TS_replication_cases-case9345411116_R01C01
Validation failed
De novo
yin_16_ASD_discovery_cases-case256
Unknown
Unknown
Unknown
yin_16_ASD_discovery_cases-case257
Unknown
Unknown
Unknown
THSD7A
yin_16_ASD_discovery_cases-case258
Unknown
Unknown
Unknown
SCIN
yuan_23_ASD_discovery_cases-qma01239s000
De novo
MIOS,COL28A1,MIOS-DT,RPA3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036009330_
Unknown
engchuan_15_ASD_discovery_controls-control110036013944_
Unknown
engchuan_15_ASD_discovery_controls-control110036017044_
Unknown
engchuan_15_ASD_discovery_controls-control110036021848_
Unknown
NPM1P11
engchuan_15_ASD_discovery_controls-controlB102147_1007853660
Unknown
engchuan_15_ASD_discovery_controls-controlB246221_1007853829
Unknown
engchuan_15_ASD_discovery_controls-controlB295710_1007841796
Unknown
engchuan_15_ASD_discovery_controls-controlB326966_1007875802
Unknown
engchuan_15_ASD_discovery_controls-controlB346627_1007872552
Unknown
engchuan_15_ASD_discovery_controls-controlB425239_1007874952
Unknown
VWDE
engchuan_15_ASD_discovery_controls-controlB438744_1007854063
Unknown
engchuan_15_ASD_discovery_controls-controlB467855_1007853980
Unknown
engchuan_15_ASD_discovery_controls-controlB497980_1007852882
Unknown
engchuan_15_ASD_discovery_controls-controlB538534_1007854364
Unknown
engchuan_15_ASD_discovery_controls-controlB566219_1007852909
Unknown
engchuan_15_ASD_discovery_controls-controlB582658_1007872312
Unknown
engchuan_15_ASD_discovery_controls-controlB582969_1007853926
Unknown
engchuan_15_ASD_discovery_controls-controlB624968_1007846463
Unknown
HSPA8P8
engchuan_15_ASD_discovery_controls-controlB726886_0067942660
Unknown
engchuan_15_ASD_discovery_controls-controlB746394_1007874345
Unknown
engchuan_15_ASD_discovery_controls-controlB749190_1007844487
Unknown
engchuan_15_ASD_discovery_controls-controlB752269_1007854332
Unknown
engchuan_15_ASD_discovery_controls-controlB788578_1007846129
Unknown
engchuan_15_ASD_discovery_controls-controlB815347_1007872302
Unknown
engchuan_15_ASD_discovery_controls-controlB816843_1007852642
Unknown
SCIN
engchuan_15_ASD_discovery_controls-controlB817828_0057061026
Unknown
ICA1,NXPH1
engchuan_15_ASD_discovery_controls-controlB922778_1007844459
Unknown
engchuan_15_ASD_discovery_controls-controlB966792_1007842353
Unknown
engchuan_15_ASD_discovery_controls-controlB975886_1007854099
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900038_900038
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900041_900041
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900115_900115
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900116_900116
Unknown
RNU6-534P,CCNB2P1,UMAD1
engchuan_15_ASD_discovery_controls-controlHABC_900202_900202
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900310_900310
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900330_900330
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900375_900375
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900375_900375
Unknown
NDUFA4,RPL23AP52,PHF14
engchuan_15_ASD_discovery_controls-controlHABC_900532_900532
Unknown
ICA1,NXPH1
engchuan_15_ASD_discovery_controls-controlHABC_900616_900616
Unknown
NPM1P11
engchuan_15_ASD_discovery_controls-controlHABC_900893_900893
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900937_900937
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900940_900940
Unknown
SCIN
engchuan_15_ASD_discovery_controls-controlHABC_901067_901067
Unknown
COL28A1
engchuan_15_ASD_discovery_controls-controlHABC_901096_901096
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902882_902882
Unknown
NPM1P11
engchuan_15_ASD_discovery_controls-controlHABC_902882_902882
Unknown
RNU6-534P,CCNB2P1,UMAD1,GLCCI1
engchuan_15_ASD_discovery_controls-controlHABC_902892_902892
Unknown
girirajan_13a_ASD_discovery_controls2-control47
Unknown
THSD7A
girirajan_13a_ASD_discovery_controls2-control48
Unknown
THSD7A
guo_17_ASD_discovery_controls-controlPY1181
qPCR
Unknown
HSPA8P8
kanduri_15_ASD_discovery_controls-control_split1502
Unknown
Intergenic CNV: nearest genes, NXPH1(dist=335648),PER4(dist=444018)
kanduri_15_ASD_discovery_controls-control_split1567
Unknown
Intergenic CNV: nearest genes, ARL4A(dist=460363),ETV1(dist=719361)
kanduri_15_ASD_discovery_controls-control_split365
Unknown
Intergenic CNV: nearest genes, NXPH1(dist=335648),PER4(dist=444018)
krumm_13_ASD_discovery_controls-control13335.s1
Maternal
Simplex
COL28A1
krumm_15_ASD_discovery_controls-control12369.s1
Illumina 1MDuo
Paternal
GLCCI1,ICA1,NXPH1
krumm_15_ASD_discovery_controls-control12597.s1
Illumina 1MDuo
Paternal
VWDE
levy_11_ASD_discovery_controls-11435.s1
Maternal
Simplex
NA
GAPDHP68,PER4
levy_11_ASD_discovery_controls-12369.s1
Paternal
Simplex
NA
RNU6-534P,CCNB2P1,UMAD1,GLCCI1,ICA1,NXPH1
levy_11_ASD_discovery_controls-12674.s1
De novo
Simplex
NA
THSD7A
nord_11_ASD_discovery_controls-04C27429
0 genes
poultney_13_ASD_discovery_controls-control05C41827
Unknown
THSD7A
sanders_11_ASD_discovery_controls-11027.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11041.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11054.s1
Paternal
Simplex (quad)
NA
VWDE
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11172.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11187.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11198.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11214.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11258.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11274.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11275.s1
Paternal
Simplex (quad)
NA
C1GALT1
sanders_11_ASD_discovery_controls-11299.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11310.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11316.s1
Paternal
Simplex (quad)
NA
NXPH1
sanders_11_ASD_discovery_controls-11368.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11401.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11425.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11435.s1
Maternal
Simplex (quad)
NA
GAPDHP68,PER4,HSPA8P8
sanders_11_ASD_discovery_controls-11440.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11466.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11490.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11494.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11509.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11543.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11549.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11556.s1
Paternal
Simplex (quad)
NA
UMAD1
sanders_11_ASD_discovery_controls-11592.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11657.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11685.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11722.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11792.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12011.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12014.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12060.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12061.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12071.s1
Maternal
Simplex (quad)
NA
TMEM106B,VWDE
sanders_11_ASD_discovery_controls-12130.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12173.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12187.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12197.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12201.s1
Paternal
Simplex (quad)
NA
SCIN
sanders_11_ASD_discovery_controls-12225.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12252.s1
Maternal
Simplex (quad)
NA
THSD7A
sanders_11_ASD_discovery_controls-12296.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12299.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12320.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12340.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12369.s1
Paternal
Simplex (quad)
NA
RNU6-534P,CCNB2P1,UMAD1,GLCCI1,ICA1,NXPH1
sanders_11_ASD_discovery_controls-12403.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12510.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12597.s1
Paternal
Simplex (quad)
NA
VWDE
sanders_11_ASD_discovery_controls-12603.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12644.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12645.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12674.s1
qPCR
De Novo
Simplex (quad)
NA
THSD7A
sanders_11_ASD_discovery_controls-12739.s1
Maternal
Simplex (quad)
NA
THSD7A
sanders_11_ASD_discovery_controls-12817.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12894.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12921.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12925.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13051.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13070.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13193.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available