1p36.13CNV Type: Deletion-Duplication
Largest CNV size: 16386000 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion
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.
Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
155121
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
292336
1
4
5
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
1808842
NA
NA
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
304000
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
970035
2
0
2
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
11456
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
82890
4
21
25
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
72691
1
2
3
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
67093
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
12000
0
1
1
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
206817
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
294887
7
1
8
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)
24606
0
3
3
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
58492
4
1
5
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
84946
0
2
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
71121
5
38
43
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
53025
1
0
1
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
53614
1
0
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
111525
2
0
2
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
32966
0
4
4
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
88927
1
3
4
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
1808842
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
15243
0
17
17
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
382882
2
4
6
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)
58492
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.
34448
9
28
37
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
32966
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
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
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
davis_09_ASD_discovery_cases-AU0039303
NA
NA
Non-syndromic ASD
Diagnosis: autism. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
16549647
16704768
155121
Unknown
Deletion
No
engchuan_15_ASD_discovery_cases-case20180_1704001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17970913
18263249
292337
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3602_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16318782
16360299
41518
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3614_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16318782
16379049
60268
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5408_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16313274
16374603
61330
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6318_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
16017865
16056772
38908
GRCh38
Deletion
No
girirajan_12_ASD/DD/ID_discovery_cases-case66566
NA
F
Developmental delay
NA
NA
16958003
18766846
1808844
GRCh38
NA
Yes
girirajan_13a_ASD_discovery_cases-13587.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
18490919
18790919
300001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001611
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
19093306
20063342
970037
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004442
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18989947
19499528
509582
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case2008
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
17599444
17610899
11456
Unknown
Duplication
No
krumm_15_ASD_discovery_cases-case11142.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17230084
17230679
596
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11165.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
19975700
19978773
3074
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11167.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17044760
17105061
60302
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11227.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11429.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17273339
17283079
9741
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11488.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
19755633
19780758
25126
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11569.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17280796
12961
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11768.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11881.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12238.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
16250669
16256759
6091
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12616.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17280796
12961
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12797.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12827.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17270232
17283079
12848
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13006.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
16250669
16256759
6091
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13072.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17270232
17280796
10565
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13250.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17276518
17359408
82891
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13274.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17267836
17280796
12961
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13536.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13539.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17280796
12961
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13540.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17280796
12961
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13677.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13973.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14115.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14375.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17270232
17283079
12848
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14423.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18631595
18691955
60361
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11488.p1
NA
M
ASD
NA
NA
19754329
19827019
72691
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11505.p1
NA
M
ASD
NA
NA
16022931
16059969
37039
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-11721.p1
NA
M
ASD
NA
NA
16321411
16378073
56663
GRCh38
Duplication
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
16868660
16935752
67093
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam1096Proband10783
N/A
M
ASD
Additional clinical profile info N/A
ID
17274588
17286950
12363
GRCh38
Duplication
No
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
N/A
M
ASD and intellectual disability
Developmental milestones: mild delay in walking (18 months); language regression after 2.5 years of age. Language and communication evaluation: non-verbal autism. Behavioral/psychiatric evaluation: non-verbal autism; OCD; irritability; mood disorder; stereotypies. Family history: father affected by mood disorder, anxiety, and chronic alcoholism; father's cousin affected by language delay; mother with autoimmune connective tissue disease.
Severe intellectual disability
16724685
16931502
206818
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case5065_3
NA
M
Autism
Language delay, no epilepsy, spina bifida oculta, high arched palate, no other dysmorphic features noted
Below average nonverbal IQ (<1%ile)
17079505
17140083
60579
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5099_3
NA
M
ASD
NA
NA
16887388
16941001
53614
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5106_3
NA
M
ASD
Language delay, no epilepsy, no dysmorphic features, CT scan normal
Below average nonverbal IQ (<1%ile)
16887388
16941001
53614
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5215_3
NA
M
ASD
NA
NA
16845197
17140083
294887
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5218_3
NA
M
ASD
NA
NA
17085956
17146815
60860
Unknown
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)
17085956
17148404
62449
Unknown
Deletion
Yes
pinto_10_ASD_discovery_cases-case5319_3
NA
M
ASD
NA
NA
16887388
16941001
53614
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5408_3
NA
M
ASD
NA
NA
16313274
16374603
61330
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case03HI2440A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0903301; NDAR ID NDAR_INVLJ629KN2)
16924323
16948928
24606
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3822A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1459301; NDAR ID NDAR_INVHP685MVK)
16250668
16256761
6094
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI4240A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1466304; NDAR ID NDAR_INVVJ955FBC)
16924323
16948928
24606
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case117461L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16578394
16592020
13627
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50067
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
18450858
18472990
22133
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59997L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
17726548
17734912
8365
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case68609
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
17356749
17386847
30099
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case77405L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
16520303
16578794
58492
Unknown
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1427-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: no. Intellectual disability: no.
17159056
17230638
71583
GRCh38
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1457-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
19216437
19301382
84946
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11001.p1
7.8
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 123; verbal IQ, 113
16323464
16336337
12874
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11129.p1
4.7
F
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
16021917
16042482
20566
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11134.p1
13.6
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
17269316
17287314
17999
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11141.p1
6.7
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 81
16021917
16041908
19992
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11165.p1
5.2
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 112; verbal IQ 89
19974816
19980951
6136
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11167.p1
11
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
17104793
17173732
68940
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11227.p1
9.7
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 93; verbal IQ, 63
17269430
17287314
17885
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11251.p1
7.3
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11336.p1
10.4
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 124; verbal IQ, 114
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11429.p1
11.3
M
Autism
NA
Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 102
17272949
17304232
31284
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11488.p1
11
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80
19753817
19824938
71122
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
16021917
16056772
34856
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11522.p1
11.3
M
Autism
NA
Full-scale IQ, 67; non-verbal IQ, 79; verbal IQ, 60
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11569.p1
9.1
F
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 45
17271226
17287314
16089
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11704.p1
9.3
M
Autism
NA
Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
16021917
16045437
23521
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11721.p1
4.8
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
16323464
16360299
36836
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
17269316
17287314
17999
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
16021917
16042482
20566
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11881.p1
9.5
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 90; verbal IQ, 89
17269316
17287314
17999
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11948.p1
9.5
F
Autism
NA
Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11962.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 99; verbal IQ, 75
16041829
16061018
19190
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11995.p1
5.4
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 101; verbal IQ, 77
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11999.p1
5.8
F
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12031.p1
13.5
M
Autism
NA
Full-scale IQ, 123; non-verbal IQ, 108; verbal IQ, 133
16037430
16056772
19343
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
16020429
16041908
21480
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12086.p1
14.5
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 108; verbal IQ, 131
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12120.p1
5.1
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 115; verbal IQ, 85
17296159
17306105
9947
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
16021917
16042482
20566
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
16041829
16061018
19190
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12255.p1
4.1
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 98; verbal IQ, 87
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12335.p1
6.3
F
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12362.p1
7.5
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
16037430
16045437
8008
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12451.p1
9.6
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12478.p1
4.8
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 68
16041829
16061018
19190
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12536.p1
5.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 81
17494246
17526611
32366
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12616.p1
4.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 113; verbal IQ, 104
17269316
17287314
17999
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12685.p1
16
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 99; verbal IQ, 102
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12787.p1
7.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 130; verbal IQ, 88
16041829
16061018
19190
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13019.p1
5.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 52; verbal IQ, 20
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13072.p1
15.5
F
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
17269316
17287314
17999
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13073.p1
4.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
16043984
16056772
12789
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family22_Twin_2
N/A
N/A
NDD
Case is from a dizygotic twin pair from the Concordant NDD diagnostic group
19112642
19165666
53025
GRCh38
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
16887388
16941001
53614
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
16547214
16658739
111526
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
16727362
16797282
69921
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case10
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
16935740
16968705
32966
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case11
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
16935740
16968705
32966
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case12
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
16935740
16968705
32966
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case9
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
16935740
16968705
32966
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-controlB203042_1007874364
N/A
N/A
Control
No previous psychiatric history
17279279
17368206
88928
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
N/A
N/A
Control
No previous psychiatric history
17067394
17099334
31941
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900614_900614
N/A
N/A
Control
No previous psychiatric history
16020012
16070311
50300
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901152_901152
N/A
N/A
Control
No previous psychiatric history
17452075
17516673
64599
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control11172.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11227.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17270232
17280796
10565
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11429.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17273339
17283079
9741
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12498.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12784.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13006.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
16250669
16256759
6091
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13174.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17270878
17283079
12202
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13196.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13537.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17280429
12594
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13739.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13813.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17270232
17276663
6432
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13829.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13973.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17280796
12961
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14028.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14115.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14197.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17280796
12961
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14375.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17267836
17283079
15244
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_controls-control04C29691B
N/A
M
Control
NIMH Control (NIMH ID 17241)
16023798
16033660
9863
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C31298A
N/A
F
Control
NIMH Control (NIMH ID 79383)
16033609
16056918
23310
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36280A
N/A
F
Control
NIMH Control (NIMH ID 71574)
16924323
16948928
24606
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C38261A
N/A
F
Control
NIMH Control (NIMH ID 94269)
16024761
16045688
20928
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C40144A
N/A
F
Control
NIMH Control (NIMH ID 33099)
16566047
16948928
382882
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C44568
N/A
M
Control
NIMH Control (NIMH ID 81083)
16930427
16948928
18502
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11164.s1
5.4
F
Control (matched sibling)
NA
NA
16455044
16471261
16218
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11172.s1
13.6
F
Control (matched sibling)
NA
NA
17269430
17287314
17885
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11227.s1
14.5
M
Control (matched sibling)
NA
NA
17269430
17287314
17885
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11318.s1
5.7
M
Control (matched sibling)
NA
NA
17269430
17287314
17885
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11336.s1
12.9
F
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11395.s1
3.5
M
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11400.s1
10.8
F
Control (matched sibling)
NA
NA
18895127
18910613
15487
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11429.s1
18.6
M
Control (matched sibling)
NA
NA
17272949
17307397
34449
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11480.s1
13.8
F
Control (matched sibling)
NA
NA
17066485
17070381
3897
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11522.s1
15.6
M
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11569.s1
5.6
M
Control (matched sibling)
NA
NA
17269430
17287314
17885
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11630.s1
8.3
M
Control (matched sibling)
NA
NA
16405166
16413458
8293
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
16021917
16041908
19992
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11962.s1
7.8
M
Control (matched sibling)
NA
NA
16041829
16061018
19190
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12120.s1
7.8
F
Control (matched sibling)
NA
NA
17296159
17306105
9947
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12175.s1
6.7
F
Control (matched sibling)
NA
NA
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12206.s1
13.1
M
Control (matched sibling)
NA
NA
16041829
16061018
19190
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12225.s1
16.4
M
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12313.s1
9.8
F
Control (matched sibling)
NA
NA
16041829
16061018
19190
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12335.s1
4.7
F
Control (matched sibling)
NA
NA
16041829
16054320
12492
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12478.s1
14.5
M
Control (matched sibling)
NA
NA
16043984
16061018
17035
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12512.s1
11.3
F
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12630.s1
8
F
Control (matched sibling)
NA
NA
16037430
16056772
19343
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
16022234
16042482
20249
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12784.s1
8.4
M
Control (matched sibling)
NA
NA
17269316
17287314
17999
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12787.s1
10.8
F
Control (matched sibling)
NA
NA
16041829
16061018
19190
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12829.s1
14.1
M
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12851.s1
5.8
M
Control (matched sibling)
NA
NA
16037430
16056772
19343
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13196.s1
12.1
M
Control (matched sibling)
NA
NA
17269316
17287314
17999
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13216.s1
6
M
Control (matched sibling)
NA
NA
16041829
16056772
14944
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
davis_09_ASD_discovery_cases-AU0039303
Unknown
Unknown
Unknown
NBPF10, NBPF1
engchuan_15_ASD_discovery_cases-case20180_1704001
Unknown
LINC01654,IGSF21-AS1,IGSF21
engchuan_15_ASD_discovery_cases-case3602_3
Unknown
FBXO42,SZRD1
engchuan_15_ASD_discovery_cases-case3614_3
Unknown
RPL22P3,FBXO42,SZRD1
engchuan_15_ASD_discovery_cases-case5408_3
Unknown
RPL22P3,FBXO42,SZRD1
engchuan_15_ASD_discovery_cases-case6318_3
Unknown
HSPB7,CLCNKA,CLCNKB
girirajan_12_ASD/DD/ID_discovery_cases-case66566
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
MFAP2,MIR3972,DYNLL1P3,ATP13A2,PADI2,PADI1,PADI3,PADI4,PADI6,LINC01654,IGSF21-AS1,SDHB,RCC2,ARHGEF10L,IGSF21,KLHDC7A,PAX7,ACTL8,CROCC
girirajan_13a_ASD_discovery_cases-13587.p1
Unknown
Simplex
Unknown
DYNLL1P3,PAX7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001611
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MRTO4,AKR7A2,RNU6-1099P,RN7SL277P,RNU4-28P,RNF186,RN7SL304P,PLA2G2A,EMC1,AKR7A3,PQLC2,NBL1,HTR6,OTUD3,UBR4,AKR7L,CAPZB,TMCO4,PLA2G5,PLA2G2E
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004442
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MRTO4,AKR7A2,RNU6-1099P,RN7SL277P,EMC1,AKR7A3,PQLC2,UBR4,AKR7L,CAPZB
kanduri_15_ASD_discovery_cases-case2008
Paternal
Unknown
Unknown
PADI3
krumm_15_ASD_discovery_cases-case11142.p1
Illumina 1M
Paternal
Simplex
Segregated
PADI1
krumm_15_ASD_discovery_cases-case11165.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PLA2G2A
krumm_15_ASD_discovery_cases-case11167.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PADI2,SDHB
krumm_15_ASD_discovery_cases-case11227.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case11429.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case11488.p1
Illumina 1M
Paternal
Simplex
Segregated
TMCO4
krumm_15_ASD_discovery_cases-case11569.p1
Illumina 1M
Paternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case11768.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case11881.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case12238.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
FBXO42
krumm_15_ASD_discovery_cases-case12616.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case12797.p1
1M-Duov3
Maternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case12827.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case13006.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
FBXO42
krumm_15_ASD_discovery_cases-case13072.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case13250.p1
1M-Duov3
Maternal
Simplex
Segregated
MIR3972,PADI3,PADI4
krumm_15_ASD_discovery_cases-case13274.p1
1M-Duov3
Paternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case13536.p1
1M-Duov3
Maternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case13539.p1
1M-Duov3
Maternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case13540.p1
1M-Duov3
Paternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case13677.p1
1M-Duov3
Paternal
Simplex
Segregated
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case13973.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case14115.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case14375.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MIR3972,PADI3
krumm_15_ASD_discovery_cases-case14423.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
PAX7
levy_11_ASD_discovery_cases-11488.p1
Paternal
Simplex
Segregated
RNF186,TMCO4
levy_11_ASD_discovery_cases-11505.p1
Paternal
Simplex
Segregated
CLCNKA,CLCNKB,FAM131C
levy_11_ASD_discovery_cases-11721.p1
Maternal
Simplex
Segregated
RPL22P3,FBXO42,SZRD1
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
RNU1-5P,RNU1-2,CROCC
nava_13_ASD_discovery_cases-Fam1096Proband10783
Unknown
Simplex
Unknown
MIR3972,PADI3
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient1
Unknown
Multi-generational
Unknown
RNU1-4,MIR3675,RNU1-5P,RNU1-2,CROCCP4,MST1L,CROCC
pinto_10_ASD_discovery_cases-case5065_3
Agilent1M
maternal
Multiplex
Unknown
CROCC
pinto_10_ASD_discovery_cases-case5099_3
Agilent1M
Both parents
NA
NA
RNU1-2,CROCC
pinto_10_ASD_discovery_cases-case5106_3
Agilent1M
maternal
NA
NA
RNU1-2,CROCC
pinto_10_ASD_discovery_cases-case5215_3
Agilent1M
Both parents
NA
NA
ESPNP,MSTP9,CROCC
pinto_10_ASD_discovery_cases-case5218_3
Agilent1M
pcnv-maternal
NA
NA
CROCC
pinto_10_ASD_discovery_cases-case5241_3
Agilent1M
De novo
Multiplex
NA
CROCC
pinto_10_ASD_discovery_cases-case5319_3
Agilent1M
maternal
NA
NA
RNU1-2,CROCC
pinto_10_ASD_discovery_cases-case5408_3
Agilent1M
paternal
NA
NA
RPL22P3,FBXO42,SZRD1
poultney_13_ASD_discovery_cases-case03HI2440A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CROCC
poultney_13_ASD_discovery_cases-case05HI3822A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
FBXO42
poultney_13_ASD_discovery_cases-case05HI4240A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
CROCC
prasad_12_ASD_discovery_cases-case117461L
Unknown
Unknown
Unknown
C1orf144
prasad_12_ASD_discovery_cases-case50067
Unknown
Unknown
Unknown
IGSF21
prasad_12_ASD_discovery_cases-case59997L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case68609
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case77405L
Unknown
Unknown
Unknown
C1orf144,FBXO42
sajan_13_ACC/CBLH/PMG_discovery_cases-case1427-0
qPCR
Unknown
Unknown
Unknown
PADI1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1457-0
qPCR (CNV not detected)
Biparental/Diploid copy number
Unknown
Unknown
MRTO4,EMC1,AKR7A3,AKR7L
sanders_11_ASD_discovery_cases-11001.p1
Paternal
Simplex (trio)
NA
FBXO42
sanders_11_ASD_discovery_cases-11098.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-11129.p1
Paternal
Simplex (trio)
NA
CLCNKA
sanders_11_ASD_discovery_cases-11134.p1
Paternal
Simplex (trio)
NA
MIR3972,PADI3
sanders_11_ASD_discovery_cases-11141.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKA
sanders_11_ASD_discovery_cases-11165.p1
Paternal
Simplex (trio)
NA
PLA2G2A
sanders_11_ASD_discovery_cases-11167.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PADI2
sanders_11_ASD_discovery_cases-11227.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3972,PADI3
sanders_11_ASD_discovery_cases-11251.p1
Maternal
Simplex (quad-proband matched)
Segregated
CLCNKB
sanders_11_ASD_discovery_cases-11336.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-11429.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3972,PADI3
sanders_11_ASD_discovery_cases-11488.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNF186,TMCO4
sanders_11_ASD_discovery_cases-11505.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKA,CLCNKB
sanders_11_ASD_discovery_cases-11522.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-11569.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3972,PADI3
sanders_11_ASD_discovery_cases-11704.p1
Paternal
Simplex (trio)
NA
CLCNKA,CLCNKB
sanders_11_ASD_discovery_cases-11721.p1
Maternal
Simplex (quad-proband matched)
Not segregated
FBXO42,SZRD1
sanders_11_ASD_discovery_cases-11768.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3972,PADI3
sanders_11_ASD_discovery_cases-11818.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKA
sanders_11_ASD_discovery_cases-11881.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR3972,PADI3
sanders_11_ASD_discovery_cases-11948.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-11962.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCNKB,FAM131C
sanders_11_ASD_discovery_cases-11995.p1
Paternal
Simplex (trio)
NA
CLCNKB
sanders_11_ASD_discovery_cases-11999.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-12031.p1
Maternal
Simplex (trio)
NA
CLCNKB
sanders_11_ASD_discovery_cases-12071.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCNKA
sanders_11_ASD_discovery_cases-12086.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-12120.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12137.p1
Maternal
Simplex (trio)
NA
CLCNKA
sanders_11_ASD_discovery_cases-12229.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCNKB,FAM131C
sanders_11_ASD_discovery_cases-12255.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-12335.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-12362.p1
Maternal
Simplex (trio)
NA
CLCNKB
sanders_11_ASD_discovery_cases-12451.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-12478.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCNKB,FAM131C
sanders_11_ASD_discovery_cases-12536.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12616.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3972,PADI3
sanders_11_ASD_discovery_cases-12685.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
sanders_11_ASD_discovery_cases-12787.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CLCNKB,FAM131C
sanders_11_ASD_discovery_cases-13019.p1
Maternal
Simplex (trio)
NA
CLCNKB
sanders_11_ASD_discovery_cases-13065.p1
Maternal
Simplex (trio)
NA
CLCNKB
sanders_11_ASD_discovery_cases-13072.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR3972,PADI3
sanders_11_ASD_discovery_cases-13073.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CLCNKB
stamouli_18_ASD/NDD_discovery_cases-family22_Twin_2
Unknown
Multiplex
Not segregated (CNV not present in affected twin)
UBR4
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
RNU1-2,CROCC
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
NBPF1,CROCCP2,MST1P2
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
RNU1-4,CROCCP4,MST1L,CROCC
yin_16_ASD_discovery_cases-case10
Unknown
Unknown
Unknown
CROCC
yin_16_ASD_discovery_cases-case11
Unknown
Unknown
Unknown
CROCC
yin_16_ASD_discovery_cases-case12
Unknown
Unknown
Unknown
CROCC
yin_16_ASD_discovery_cases-case9
Unknown
Unknown
Unknown
CROCC
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB203042_1007874364
Unknown
PADI3,PADI4
engchuan_15_ASD_discovery_controls-controlB944304_1007853858
Unknown
PADI2
engchuan_15_ASD_discovery_controls-controlHABC_900614_900614
Unknown
CLCNKA,CLCNKB,FAM131C
engchuan_15_ASD_discovery_controls-controlHABC_901152_901152
Unknown
krumm_15_ASD_discovery_controls-control11172.s1
Illumina 1M
Paternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control11227.s1
Illumina 1M
Paternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control11429.s1
Illumina 1M
Paternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control12498.s1
Illumina 1MDuo
Maternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control12784.s1
Illumina 1MDuo
Paternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control13006.s1
Illumina 1MDuo
Maternal
FBXO42
krumm_15_ASD_discovery_controls-control13174.s1
Illumina 1MDuo
Paternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control13196.s1
Illumina 1MDuo
Paternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control13537.s1
1M-Duov3
Maternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control13739.s1
Omni2.5-4v1
Maternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control13813.s1
Omni2.5-4v1
Maternal
PADI3
krumm_15_ASD_discovery_controls-control13829.s1
Omni2.5-4v1
Paternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control13973.s1
Omni2.5-4v1
Maternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control14028.s1
Omni2.5-4v1
Paternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control14115.s1
Omni2.5-4v1
Maternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control14197.s1
Omni2.5-4v1
Maternal
MIR3972,PADI3
krumm_15_ASD_discovery_controls-control14375.s1
Omni2.5-4v1
Maternal
MIR3972,PADI3
poultney_13_ASD_discovery_controls-control04C29691B
Unknown
CLCNKA
poultney_13_ASD_discovery_controls-control04C31298A
Unknown
CLCNKA,CLCNKB
poultney_13_ASD_discovery_controls-control04C36280A
qPCR
Unknown
CROCC
poultney_13_ASD_discovery_controls-control04C38261A
Unknown
CLCNKA,CLCNKB
poultney_13_ASD_discovery_controls-control05C40144A
Unknown
RNU1-3,EIF1AXP1,RNU1-4,MIR3675,RNU1-5P,RNU1-2,NBPF1,ESPNP,CROCCP4,MST1L,CROCCP2,MST1P2,CROCC
poultney_13_ASD_discovery_controls-control05C44568
Unknown
CROCC
sanders_11_ASD_discovery_controls-11098.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-11164.s1
Maternal
Simplex (quad)
NA
NECAP2,LINC01772,CROCCP3
sanders_11_ASD_discovery_controls-11172.s1
Paternal
Simplex (quad)
NA
MIR3972,PADI3
sanders_11_ASD_discovery_controls-11227.s1
Paternal
Simplex (quad)
NA
MIR3972,PADI3
sanders_11_ASD_discovery_controls-11318.s1
Paternal
Simplex (quad)
NA
MIR3972,PADI3
sanders_11_ASD_discovery_controls-11336.s1
Maternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-11395.s1
Maternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-11400.s1
Unknown
Simplex (quad)
NA
MIR1290,IFFO2,ALDH4A1
sanders_11_ASD_discovery_controls-11429.s1
Paternal
Simplex (quad)
NA
MIR3972,PADI3
sanders_11_ASD_discovery_controls-11480.s1
Paternal
Simplex (quad)
NA
PADI2
sanders_11_ASD_discovery_controls-11522.s1
Maternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-11563.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-11569.s1
Paternal
Simplex (quad)
NA
MIR3972,PADI3
sanders_11_ASD_discovery_controls-11584.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-11630.s1
Maternal
Simplex (quad)
NA
SPATA21
sanders_11_ASD_discovery_controls-11673.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
CLCNKA
sanders_11_ASD_discovery_controls-11962.s1
Maternal
Simplex (quad)
NA
CLCNKB,FAM131C
sanders_11_ASD_discovery_controls-11999.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12120.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12175.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12206.s1
Maternal
Simplex (quad)
NA
CLCNKB,FAM131C
sanders_11_ASD_discovery_controls-12219.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12225.s1
Maternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12227.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12313.s1
Paternal
Simplex (quad)
NA
CLCNKB,FAM131C
sanders_11_ASD_discovery_controls-12335.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12478.s1
Maternal
Simplex (quad)
NA
CLCNKB,FAM131C
sanders_11_ASD_discovery_controls-12512.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12630.s1
Maternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12638.s1
Paternal
Simplex (quad)
NA
CLCNKA
sanders_11_ASD_discovery_controls-12784.s1
Paternal
Simplex (quad)
NA
MIR3972,PADI3
sanders_11_ASD_discovery_controls-12787.s1
Maternal
Simplex (quad)
NA
CLCNKB,FAM131C
sanders_11_ASD_discovery_controls-12829.s1
Maternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-12851.s1
Paternal
Simplex (quad)
NA
CLCNKB
sanders_11_ASD_discovery_controls-13196.s1
Paternal
Simplex (quad)
NA
MIR3972,PADI3
sanders_11_ASD_discovery_controls-13216.s1
Maternal
Simplex (quad)
NA
CLCNKB
No Animal Model Data Available