19q13.43CNV Type: Deletion-Duplication
Largest CNV size: 734100 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion-Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion-Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Both rare and common genetic variants contribute to autism in the Faroe Islands.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_cases
Patients assessed in the course of the Lithuanian-Swiss cooperation programme "Research and Development", the joint research project "Unique Genome Variants in Congenital Neurodevelopment Disorders: Origin, Genomic Mechanisms, Functional and Clinical Consequences" (UNIGENE)
66
All cases present with either syndromic or non-syndromic developmental delay/intellectual disability (DD/ID), ranging from mild to profound
N/A
N/A
1300000
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
222032
0
3
3
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
22626
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
278000
0
2
2
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
2217993
0
2
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
97800
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
381073
2
5
7
leblond_19_ASD_discovery_cases
Individuals originally recruited from an epidemiological cohort targeting children born in the 10-year period from 1985 through 1994 and living in the Faroe Islands in 2002 (7-16 years, n=7,689 children) and 2009 (15-24 years, n=7,128 children) for whom DNA was available.
36
All case diagnosed with ASD (11 diagnosed with childhood autism based on ICD-10 criteria, 17 diagnosed with Asperger syndrome based on Gillberg criteria, and 8 diagnosed with atypical autism based on ICD-10 criteria); screening included the use of the Autism Spectrum Screening Questionnaire (ASSQ) followed by examination via Diagnostic Interview for Social and Communication Disorder (DISCO-10 or DISCO-11) of one or both parents and the Wechsler Intelligence Scale for Children 3rd edition (WISC) or Wechsler Adult Intelligence Scale-Revised (WAIS).
N/A
77.78% Male
16490
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
36782
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
734100
2
1
3
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
20000
0
1
1
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
100628
1
1
2
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
222033
0
1
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)
387834
2
11
13
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
843290
5
3
8
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
1079962
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
217476
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
62829
8
4
12
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
207000
0
1
1
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
0
0
0
0
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
651622
1
3
4
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
egle_16_DD/ID_discovery_controls
CNVs from the Database of Genomic Variants (DGV)
N/A
Control
N/A
N/A
0
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
110223
0
2
2
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
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
0
0
0
0
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
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
7434
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
54826
2
2
4
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
36782
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
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)
256171
0
1
1
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
843290
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.
12838
6
3
9
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
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
651622
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
egle_16_DD/ID_discovery_cases
Lithuania
aCGH
Agilent 60K, Agilent 105K, or Agilent 1M
ADM-2
Feature Extraction 10.7.3.1, CytoGenomics 3.0.0.27 (Agilent)
FISH or RT-PCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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)
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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_cases
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
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)
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
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
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
egle_16_DD/ID_discovery_controls
N/A
N/A
N/A
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
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
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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)
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
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
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
egle_16_DD/ID_discovery_cases-case3_1
35 yrs.
F
Intellectual disability
Microcephaly, obesity, mandibular prognathia, synophrys, diabetes mellitus
Intellectual disability
57213509
58518684
1305176
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1956_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
57365317
57558872
193556
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case2232_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
58098076
58162167
64092
GRCh38
Duplication
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)
58280350
58502381
222032
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case574-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
58279847
58302473
22627
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-12716.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
58092369
58167774
75406
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13641.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
56876820
57146820
270001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002563
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
57674103
57871262
197160
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004818
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
56363208
58581203
2217996
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12716.p1
N/A
M
ASD
ASD proband from SSC quad family 12716. SRS score of 88.
Full-scale IQ (FSIQ) score of 112.
58127877
58140746
12870
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13815.p1
N/A
M
ASD
ASD proband from SSC quad family 13815. SRS score of 82.
Full-scale IQ (FSIQ) score of 51.
57323681
57421481
97801
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11141.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
58548708
58570529
21822
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12921.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
56774687
56782121
7435
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13394.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
57193874
57248700
54827
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13537.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
55923913
55987913
64001
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13641.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
57128675
57160797
32123
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13641.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
57546974
57928047
381074
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13815.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
57323681
57421481
97801
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_cases-casePN400121
N/A
F
ASD
Diagnosis of childhood autism (ADOS=22). Birth/neonatal history: born prematurely (birth weight 1500 g). Additional medical history: high blood pressure medication.
Severe intellectual disability
58246302
58262787
16486
GRCh38
Deletion
No
levy_11_ASD_discovery_cases-11191.p1
NA
M
ASD
NA
NA
56204863
56241644
36782
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-NA0110-000
NA
M
ASD
NA
NA
57847176
57990620
143445
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0047-003
NA
F
ASD
NA
NA
56707620
57441720
734101
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0232-003
NA
M
ASD
NA
NA
58279822
58567921
288100
GRCh38
Duplication
Yes
nava_13_ASD_discovery_cases-Fam755Proband8403
N/A
M
ASD
Additional clinical profile info N/A
ID
57622904
57642891
19988
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case11753.p1
NA
M
ASD/Autism
No additional clinical info available.
High IQ. Non verbal IQ, 100
57477685
57507812
30128
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case13815.p1
NA
M
ASD/Autism
Case also identified with de novo ITGB3 missense mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 56
57320853
57421481
100629
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)
58280350
58502381
222032
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
57284549
57475788
191240
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI2957A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1242303; NDAR ID NDAR_INVRN798YE0)
57556229
57944062
387834
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
57284549
57475788
191240
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
57686479
57944062
257584
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3174A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1087301; NDAR ID NDAR_INVRB961XT0)
57556229
57642183
85955
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3851A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
55952536
55962239
9704
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case98HI0027A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU028503; NDAR ID NDAR_INVXL501PFH)
57685260
57942649
257390
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0705A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017905; NDAR ID N/A)
58060001
58063543
3543
GRCh38
Deletion
No
poultney_13_ASD_discovery_cases-case99HI0807A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU055105; NDAR ID NDAR_INVME794HY9)
58545423
58557159
11737
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
57284549
57475788
191240
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0922A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU047903; NDAR ID NDAR_INVZX727FUX)
57537202
57813422
276221
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
57284549
57475788
191240
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case99HI0933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU017305; NDAR ID N/A)
57556229
57944062
387834
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case115744L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
62976604
62991050
14447
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case117482L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
62653075
62660845
7771
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47172L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
62692283
62702641
10359
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47173L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
61822868
62666157
843290
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case58449
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
63655693
63669351
13659
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59838
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
63482928
63704494
221567
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case72165
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
63045912
63194203
148292
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88810
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
63694262
63718371
24110
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_598
1 yr.
F
Developmental delay
Additional clinical information N/A
Global developmental delay
56064927
57144886
1079960
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case20259
NA
NA
ASD
NA
NA
62794103
63011579
217476
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11011.p1
8.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
56962143
56966114
3972
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11396.p1
13.6
M
Autism
NA
Full-scale IQ, 124; non-verbal IQ, 124; verbal IQ, 118
57477686
57487814
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11498.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
57492212
57500053
7842
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11555.p1
9.1
F
Aspergers
NA
Full-scale IQ, 95; non-verbal IQ, 98; verbal IQ, 91
56962143
56966114
3972
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11597.p1
12.3
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 118; verbal IQ, 128
57477686
57487814
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11753.p1
17.3
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 128
57477686
57487814
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11780.p1
4.3
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 112; verbal IQ, 120
56962143
56966114
3972
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12372.p1
15.7
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 74; verbal IQ, 80
56231306
56241523
10218
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
56231306
56242423
11118
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12921.p1
11.4
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 74; verbal IQ, 100
56719634
56782463
62830
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13056.p1
4.6
M
Autism
NA
Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
56962143
56966114
3972
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
56962143
56966114
3972
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseLAS7
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
55798955
56005981
207027
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case576
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
56381499
57033121
651623
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case577
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57133243
57595943
462701
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case578
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57366153
57419660
53508
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case579
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
57994690
58586475
591786
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-controlB926936_1007854182
N/A
N/A
Control
No previous psychiatric history
57762330
57872553
110224
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900039_900039
N/A
N/A
Control
No previous psychiatric history
58336879
58416942
80064
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control13162.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13162. SRS score of 36.
56774687
56782121
7435
GRCh38
Duplication
No (False Positive)
krumm_15_ASD_discovery_controls-control11200.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
55952537
55962237
9701
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control11391.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
58545424
58569603
24180
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13010.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
58548485
58548910
426
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13394.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
57193874
57248700
54827
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-11191.s1
NA
M
Control
NA
NA
56204863
56241644
36782
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43347
N/A
F
Control
NIMH Control (NIMH ID 27459)
57686479
57942649
256171
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11396.s1
6.6
M
Control (matched sibling)
NA
NA
57477686
57487814
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11753.s1
15.1
F
Control (matched sibling)
NA
NA
57477686
57487814
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11924.s1
9.7
F
Control (matched sibling)
NA
NA
56962143
56966114
3972
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12056.s1
7.5
M
Control (matched sibling)
NA
NA
56231306
56242423
11118
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12313.s1
9.8
F
Control (matched sibling)
NA
NA
56962143
56966114
3972
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12372.s1
13.5
F
Control (matched sibling)
NA
NA
57613597
57626435
12839
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12445.s1
6.6
M
Control (matched sibling)
NA
NA
57477686
57487814
10129
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12838.s1
7.1
F
Control (matched sibling)
NA
NA
57613597
57623981
10385
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13296.s1
4.3
F
Control (matched sibling)
NA
NA
56691556
56703805
12250
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
egle_16_DD/ID_discovery_cases-case3_1
FISH or RT-PCR
Paternal
AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,LETM1P2,HNRNPDLP4,RN7SL526P,RPS15AP36,MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,C19orf18,ZNF606,VN2R19P,ZSCAN1,ZSCAN18,ZNF329,ZNF544,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,ZNF460-AS1,ZNF549,ZNF550,ZNF586,ZNF418,ZNF135,ZNF274,ZSCAN22,ZSCAN4
engchuan_15_ASD_discovery_cases-case1956_302
Unknown
TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF549,ZNF550
engchuan_15_ASD_discovery_cases-case2232_1
Unknown
ZSCAN18,ZNF329
engchuan_15_ASD_discovery_cases-case5241_3
Unknown
MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZSCAN22
gazzellone_14_ASD_discovery_cases-case574-3
Unknown
Unknown
Unknown
ZNF8
girirajan_13a_ASD_discovery_cases-12716.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
ZSCAN18,ZNF329
girirajan_13a_ASD_discovery_cases-13641.p1
Unknown
Simplex
Unknown
ZIM3,RPL7AP69,USP29
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002563
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ZNF552,FKBP1AP1,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF586,ZSCAN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004818
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SLC25A36P1,SIGLEC31P,SMIM17,ZNF835,MIMT1,ZIM3,AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,LETM1P2,HNRNPDLP4,RN7SL526P,RPS15AP36,MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,RN7SL525P,TRIM28,MIR6807,CHMP2A,ZNF542P,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZNF471,ZFP28,ZNF470,ZIM2-AS1,ZIM2,PEG3,RPL7AP69,USP29,DUXA,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,C19orf18,ZNF606,VN2R19P,ZSCAN1,ZSCAN18,ZNF329,ZNF544,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,UBE2M,MZF1-AS1,MZF1,ZSCAN5A,ZNF667-AS1,OR5AH1P,ZNF460-AS1,ZNF549,ZNF550,ZNF586,ZNF418,ZNF135,ZNF274,ZSCAN22,CENPBD1P1,ZNF71,ZSCAN4
krumm_13_ASD_discovery_cases-case12716.p1
Paternal
Simplex
Not segregated
ZNF329
krumm_13_ASD_discovery_cases-case13815.p1
Maternal
Simplex
Segregated
ZNF304,TRAPPC2B,ZNF17,ZNF543,ZNF547,ZNF548
krumm_15_ASD_discovery_cases-case11141.p1
Illumina 1M
Paternal
Simplex
Segregated
TRIM28,MIR6807,CHMP2A,UBE2M,MZF1-AS1,MZF1
krumm_15_ASD_discovery_cases-case12921.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
ZIM2-AS1,ZIM2
krumm_15_ASD_discovery_cases-case13394.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
AURKC,ZNF264,ZNF805
krumm_15_ASD_discovery_cases-case13537.p1
1M-Duov3
Paternal
Simplex
Segregated
NLRP13,NLRP8
krumm_15_ASD_discovery_cases-case13641.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ZIM3,USP29,DUXA
krumm_15_ASD_discovery_cases-case13641.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
TPRG1LP1,ZNF552,FKBP1AP1,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF549,ZNF550,ZNF586,ZNF418,ZSCAN4
krumm_15_ASD_discovery_cases-case13815.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ZNF304,TRAPPC2B,ZNF17,ZNF543,ZNF547,ZNF548
leblond_19_ASD_discovery_cases-casePN400121
Unknown
Simplex
Unknown
ZNF544
levy_11_ASD_discovery_cases-11191.p1
Maternal
Simplex
Not segregated
ZSCAN5C,ZSCAN5A
marshall_08_ASD_discovery_cases-NA0110-000
qPCR, qmPCR
Unknown
NA
NA
ZNF256,ZNF814,ZNF587,ZNF417,C19orf18,ZNF606,ZNF418
marshall_08_ASD_discovery_cases-SK0047-003
qPCR, qmPCR
Unknown
NA
NA
MIMT1,ZIM3,AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,ZIM2-AS1,ZIM2,PEG3,RPL7AP69,USP29,DUXA,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,OR5AH1P,ZNF460-AS1
marshall_08_ASD_discovery_cases-SK0232-003
qPCR, qmPCR
Unknown
NA
NA
MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,RN7SL525P,TRIM28,MIR6807,CHMP2A,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,UBE2M,MZF1-AS1,MZF1,ZSCAN22
nava_13_ASD_discovery_cases-Fam755Proband8403
Paternal
Simplex
Unknown
ZNF134,ZNF211
o'roak_12_ASD_discovery_cases-case11753.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
ZNF419,ZNF773
o'roak_12_ASD_discovery_cases-case13815.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
ZNF304,TRAPPC2B,ZNF17,ZNF543,ZNF547,ZNF548
pinto_10_ASD_discovery_cases-case5241_3
Agilent1M
paternal
Multiplex
NA
MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZSCAN22
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772
poultney_13_ASD_discovery_cases-case04HI2957A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF549,ZNF550,ZNF586,ZNF418,ZSCAN4
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF552,FKBP1AP1,ZNF256,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF586,ZNF418
poultney_13_ASD_discovery_cases-case04HI3174A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF549,ZNF550
poultney_13_ASD_discovery_cases-case05HI3851A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
NLRP8
poultney_13_ASD_discovery_cases-case98HI0027A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF552,FKBP1AP1,ZNF256,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF586,ZNF418
poultney_13_ASD_discovery_cases-case99HI0705A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF135
poultney_13_ASD_discovery_cases-case99HI0807A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TRIM28,MIR6807,CHMP2A,UBE2M
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772
poultney_13_ASD_discovery_cases-case99HI0922A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TPRG1LP1,ZNF552,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF549,ZNF550,ZNF586,ZSCAN4
poultney_13_ASD_discovery_cases-case99HI0933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772
poultney_13_ASD_discovery_cases-case99HI0933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
TPRG1LP1,ZNF552,FKBP1AP1,ZNF256,ZNF416,ZIK1,ZNF530,ZNF134,ZNF211,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF549,ZNF550,ZNF586,ZNF418,ZSCAN4
prasad_12_ASD_discovery_cases-case115744L
Unknown
Unknown
Unknown
ZNF586
prasad_12_ASD_discovery_cases-case117482L
Unknown
Unknown
Unknown
VN1R1
prasad_12_ASD_discovery_cases-case47172L
Unknown
Unknown
Unknown
ZNF419
prasad_12_ASD_discovery_cases-case47173L
Unknown
Unknown
Unknown
TRAPPC2P1,ZNF835,USP29,ZNF17,ZNF71,ZNF749,ZNF264,LOC147670,VN1R1,AURKC,PEG3-AS1,ZIM2,ZIM3,ZNF304,ZNF805,ZNF547,ZNF543,MIMT1,ZNF460,DUXA,ZNF548,PEG3
prasad_12_ASD_discovery_cases-case58449
Unknown
Unknown
Unknown
ZNF324B
prasad_12_ASD_discovery_cases-case59838
Unknown
Unknown
Unknown
ZNF324B,ZNF446,LOC646862,ZNF324,ZNF8,ZNF497,RPS5,ZNF584,ZNF837,SLC27A5,ZNF132,A1BG-AS1,ZSCAN22,A1BG
prasad_12_ASD_discovery_cases-case72165
Unknown
Unknown
Unknown
LOC100293516,ZNF606,C19orf18,ZNF256,ZNF587,ZNF418,ZNF417,ZNF814
prasad_12_ASD_discovery_cases-case88810
Unknown
Unknown
Unknown
SLC27A5,ZBTB45
quintela_17_DD/ID_discovery_cases-caseID_598
Unknown
Unknown
LINC01864,ZSCAN5C,VN2R17P,SLC25A36P1,SIGLEC31P,SMIM17,ZNF835,MIMT1,ZIM3,ZNF444,GALP,ZSCAN5B,ZSCAN5DP,EDDM13,ZNF542P,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZNF471,ZFP28,ZNF470,ZIM2-AS1,ZIM2,PEG3,RPL7AP69,USP29,ZNF787,ZSCAN5A,ZNF667-AS1,OR5AH1P,ZNF71
rosenfeld_10_ASD_discovery_cases-case20259
FISH
Paternal
Unknown
Unknown
ZIK1,ZNF530,ZNF134,ZNF211,ZSCAN4,ZNF551,ZNF154,ZNF671,ZNF776,ZNF586,ZNF552
sanders_11_ASD_discovery_cases-11011.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11396.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZNF419
sanders_11_ASD_discovery_cases-11498.p1
Maternal
Simplex (quad-proband matched)
Segregated
ZNF419,ZNF773
sanders_11_ASD_discovery_cases-11555.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11597.p1
Paternal
Simplex (quad-proband matched)
Segregated
ZNF419
sanders_11_ASD_discovery_cases-11753.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZNF419
sanders_11_ASD_discovery_cases-11780.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12372.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZSCAN5A
sanders_11_ASD_discovery_cases-12555.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ZSCAN5A
sanders_11_ASD_discovery_cases-12921.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZIM2-AS1,ZIM2,OR5AH1P
sanders_11_ASD_discovery_cases-13056.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13153.p1
Maternal
Simplex (quad-proband matched)
Not segregated
soueid_16_ASD_discovery_cases-caseLAS7
Maternal
Simplex
NLRP13,NLRP5,NLRP11,NLRP4,NLRP8
yin_16_ASD_discovery_cases-case576
Unknown
Unknown
Unknown
SLC25A36P1,SIGLEC31P,SMIM17,ZNF835,MIMT1,ZNF582,ZNF582-AS1,ZNF583,ZNF667,ZNF471,ZFP28,ZNF470,ZIM2-AS1,ZIM2,PEG3,ZNF667-AS1,OR5AH1P,ZNF71
yin_16_ASD_discovery_cases-case577
Unknown
Unknown
Unknown
ZIM3,AURKC,ZNF460,ZNF304,TRAPPC2B,ZNF17,VN1R1,VN1R107P,DUXA,ZNF264,ZNF805,ZNF543,ZNF547,ZNF548,ZNF749,ZNF772,ZNF419,ZNF773,ZNF416,ZIK1,ZNF460-AS1,ZNF549,ZNF550
yin_16_ASD_discovery_cases-case578
Unknown
Unknown
Unknown
ZNF17,ZNF547,ZNF548
yin_16_ASD_discovery_cases-case579
Unknown
Unknown
Unknown
LETM1P2,HNRNPDLP4,RN7SL526P,RPS15AP36,MIR6806,A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF132,ZNF324B,RNU6-1337P,RN7SL525P,TRIM28,MIR6807,CHMP2A,ZNF606,VN2R19P,ZSCAN1,ZSCAN18,ZNF329,ZNF544,ZNF8,ERVK3-1,ZNF497,ZNF837,RPS5,ZNF584,ZNF324,ZNF446,SLC27A5,RN7SL693P,ZBTB45,UBE2M,MZF1-AS1,MZF1,ZNF135,ZNF274,ZSCAN22,CENPBD1P1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB926936_1007854182
Unknown
ZNF552,FKBP1AP1,ZNF587B,ZNF814,ZNF587,ZNF586
engchuan_15_ASD_discovery_controls-controlHABC_900039_900039
Unknown
A1BG,A1BG-AS1,RNA5SP473,MIR4754,RNF225,LINC02560,ZNF497,ZNF837,RPS5,ZNF584,ZSCAN22
krumm_13_ASD_discovery_controls-control13162.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
ZIM2-AS1,ZIM2
krumm_15_ASD_discovery_controls-control11200.s1
Illumina 1M
Maternal
NLRP8
krumm_15_ASD_discovery_controls-control11391.s1
Illumina 1M
Paternal
TRIM28,MIR6807,CHMP2A,UBE2M,MZF1-AS1,MZF1
krumm_15_ASD_discovery_controls-control13010.s1
Illumina 1MDuo
Paternal
TRIM28
krumm_15_ASD_discovery_controls-control13394.s1
1M-Duov3
Maternal
AURKC,ZNF264,ZNF805
levy_11_ASD_discovery_controls-11191.s1
Maternal
Simplex
NA
ZSCAN5C,ZSCAN5A
poultney_13_ASD_discovery_controls-control05C43347
Unknown
ZNF552,FKBP1AP1,ZNF256,ZNF551,ZNF154,ZNF671,ZNF776,ZNF587B,ZNF814,ZNF587,ZNF417,ZNF586,ZNF418
sanders_11_ASD_discovery_controls-11396.s1
Maternal
Simplex (quad)
NA
ZNF419
sanders_11_ASD_discovery_controls-11753.s1
Paternal
Simplex (quad)
NA
ZNF419
sanders_11_ASD_discovery_controls-11924.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12056.s1
Paternal
Simplex (quad)
NA
ZSCAN5A
sanders_11_ASD_discovery_controls-12313.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12372.s1
Paternal
Simplex (quad)
NA
ZNF134
sanders_11_ASD_discovery_controls-12445.s1
Maternal
Simplex (quad)
NA
ZNF419
sanders_11_ASD_discovery_controls-12838.s1
Unknown
Simplex (quad)
NA
ZNF134
sanders_11_ASD_discovery_controls-13296.s1
Unknown
Simplex (quad)
NA
OR5AH1P
No Animal Model Data Available