3p26.2CNV Type: Deletion-Duplication
Largest CNV size: 721543 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
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
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
533721
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
285000
0
1
1
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
336069
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
274721
33
0
33
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
238527
2
0
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
278585
3
2
5
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
708000
1
1
2
glessner_09_ASD_discovery_cases
Autism Case-Control (ACC) case cohort: 54% from simplex families, 46% from multiplex families
859
859 autism (ADI). 708 autism, 124 ASD, 27 not autism (based on ADOS)
Range, 2-21
81.8% Male
4236304
3
0
3
glessner_09_ASD_replication_cases
Autism Genetic Resource Exchange (AGRE) case cohort: 5% from simplex families, 95% from multiplex families
1336
1202 autism, 134 ASD (AGRE status). 775 autism, 171 ASD, 76 not ASD or autism (based on ADOS)
Mean, 9.2 5.3
78.7% Male
4236304
12
0
12
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
15104
1
0
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
13300
1
0
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
679811
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1846
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
721543
2
1
3
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
44458
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
215011
4
0
4
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
955000
1
0
1
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
56255
1
0
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
718768
29
1
30
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
285000
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
283193
34
1
35
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_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
108862
1
0
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
281959
25
0
25
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
Solid phase hybridization (Illumina 1M SNP), qPCR
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
davis_09_ASD_discovery_cases
NA
Array SNP
Affymetrix 250K Nsp, Affymetrix 250K Syt
HMM
CNAG v2.0
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
glessner_09_ASD_discovery_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
glessner_09_ASD_replication_cases
European
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
qPCR, MLPA, array SNP
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
aCGH (Agilent 244K)
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
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)
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
glessner_09_ASD_discovery_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
glessner_09_ASD_replication_controls
Caucasian
Solid phase hybridization
HumanHap550 BeadChip
PennCNV
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
celestino-soper_11_ASD_discovery_cases-11046
NA
M
ASD
NA
NA
4303250
4836971
533722
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU005303
NA
M
ASD
NA
NA
3597152
3881088
283937
GRCh38
Duplication
Yes
davis_09_ASD_discovery_cases-AU005303
NA
NA
Syndromic ASD
Diagnosis: autism. Syndromic autism features: alopecia, areata. Family history: father with symptoms of OCD and ADHD
3493222
3829291
336069
Unknown
Duplication
Yes
engchuan_15_ASD_discovery_cases-case1020_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4093768
4129190
35423
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case1208_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13093_1103
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14048_830
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4221306
4271051
49746
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14058_1000
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14138_2360
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4084575
4124555
39981
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14319_3030
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14327_4410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3879160
4153881
274722
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14339_4530
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4051238
4087093
35856
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case16058_1571037001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4330829
4379029
48201
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20020_1104001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5348966
5394659
45694
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2300_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4115819
4234996
119178
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3211_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4052609
4219620
167012
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3432_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4188112
4236779
48668
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3517_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4102189
4140066
37878
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3582_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4195664
4283616
87953
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4188_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4051238
4208625
157388
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4222_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4051238
4208625
157388
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4235_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4079225
4171349
92125
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4236_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4335_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4124049
4236779
112731
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4424_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4051238
4107492
56255
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4541_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
5348966
5394659
45694
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5056_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4115819
4330829
215011
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5220_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4093768
4124555
30788
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5296_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4195664
4283616
87953
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5449_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4102189
4140066
37878
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5559_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4211535
4252985
41451
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6022_7
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3957986
4198269
240284
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6175_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
3874742
4094550
219809
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6254_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8612_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4079225
4175642
96418
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8723_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
4079225
4175642
96418
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1493301
Autism
3974670
4213196
238527
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1616301
Autism
4110452
4140733
30282
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU004904
Autism
4110452
4140733
30282
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU005303
Autism
3562732
3841316
278585
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU005304
Autism
3562732
3841316
278585
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU048206
Autism
4347513
4395255
47743
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU074503
Autism
4168500
4249646
81147
Unknown
Deletion
No
girirajan_13a_ASD_discovery_cases-11046.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
4123316
4823316
700001
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-AU005303
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
3553316
3843316
290001
GRCh38
Duplication
No
glessner_09_ASD_discovery_cases-AU074503
NA
ASD
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_discovery_cases-C209603
NA
ASD
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_discovery_cases-M201403
NA
ASD
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_discovery_cases-Owely_E013
NA
ASD
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_cases-AU037104
NA
ASD
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_cases-AU045514
NA
ASD
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_cases-AU057403
NA
M
ASD
Autism
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_cases-AU057404
NA
M
ASD
Autism
NA
4183047
4219620
36574
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU057405
NA
F
ASD
ASD
NA
4183047
4219620
36574
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU064704
NA
ASD
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_cases-AU073003
NA
M
ASD
Autism
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_cases-AU073005
NA
M
ASD
Autism
NA
4183047
4219620
36574
GRCh38
Deletion
Yes
glessner_09_ASD_replication_cases-AU1086302
NA
ASD
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_cases-AU1444301
NA
M
ASD
Autism
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_cases-AU1444302
NA
F
ASD
Autism
NA
4183047
4219620
36574
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI0700
NA
NA
Autism
NA
NA
3970978
3986082
15105
GRCh38
Deletion
Yes
kalsner_17_ASD_discovery_cases-case14
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
3011096
3044355
33260
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002278
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4746966
5426775
679810
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12447.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
3074781
3076627
1847
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11046.p1
NA
M
ASD
NA
NA
4996775
5009847
13073
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11046.p1
NA
M
ASD
NA
NA
4116337
4837879
721543
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11393.p1
NA
M
ASD
NA
NA
4270237
4379098
108862
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0283-003
NA
F
ASD
NA
NA
5348821
5393278
44458
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1020_4
NA
M
ASD
NA
NA
4093768
4129190
35423
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3211_003
NA
M
Autism
No language delay, height P97, head circumference P50, epicanthus, steepled palate, physical and neurological exam otherwise normal; 16p11.2 microduplication syndrome
Normal IQ
4052609
4219620
167012
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3319_003
NA
F
Autism
No functional language, no epilepsy
MR
4046892
4059672
12781
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5056_4
NA
M
Autism
Below average language (<1%ile), no epilepsy, no dysmorphic features, normal neurological exam
Severe MR
4115819
4330829
215011
GRCh38
Deletion
Yes
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase7
1 yr.
F
Learning disability (developmental delay/intellectual disability)
No reported clinical features
3965974
4921022
955049
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1645-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
4051238
4107492
56255
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11046.p1
6.6
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
4116896
4835664
718769
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11083.p1
8.8
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 122
4051238
4183047
131810
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11156.p1
13.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 111; verbal IQ, 96
5243601
5293090
49490
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11283.p1
12
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
4138385
4271051
132667
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11284.p1
8.3
M
ASD
NA
Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
4046892
4059672
12781
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11325.p1
15.6
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 48; verbal IQ, 21
3874105
4051935
177831
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11390.p1
8.3
F
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 77; verbal IQ, 57
3858107
4143342
285236
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11393.p1
8.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 37; verbal IQ, 17
4271051
4388023
116973
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11398.p1
12.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 106; verbal IQ, 77
4120923
4153881
32959
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11465.p1
11.4
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 73; verbal IQ, 95
4138385
4278658
140274
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11472.p1
13.7
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 30; verbal IQ, 31
4051238
4059672
8435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11483.p1
9.9
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
5056308
5220391
164084
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11506.p1
7
F
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
3593957
3599765
5809
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11573.p1
8.6
M
ASD
NA
Full-scale IQ, 68; non-verbal IQ, 85; verbal IQ, 51
4138385
4275761
137377
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11700.p1
6.5
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 80
4046892
4059672
12781
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11731.p1
9.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 82; verbal IQ, 60
4008040
4188112
180073
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
3957986
3969792
11807
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12210.p1
16.3
M
Autism
NA
Full-scale IQ, 18; non-verbal IQ, 19; verbal IQ, 19
5348966
5394659
45694
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12220.p1
14.4
F
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 13
4151816
4157761
5946
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12233.p1
5.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
4604232
4609817
5586
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12380.p1
14.7
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 90; verbal IQ, 80
4046892
4059672
12781
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12418.p1
13.4
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 95; verbal IQ, 115
4151816
4157761
5946
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12484.p1
9.4
M
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 107; verbal IQ, 83
4068016
4124555
56540
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12664.p1
11.4
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 96; verbal IQ, 89
4051238
4059672
8435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12674.p1
6.5
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 86
4051238
4059672
8435
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12865.p1
8.3
M
Autism
NA
Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
4003518
4059672
56155
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13006.p1
10.5
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 56; verbal IQ, 57
4838582
4858654
20073
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13012.p1
5.8
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 60; verbal IQ, 21
3924671
3999905
75235
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13128.p1
11
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 88
4295321
4304082
8762
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13294.p1
5.8
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
4051238
4059672
8435
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-control110036015360_
N/A
N/A
Control
No previous psychiatric history
4059672
4124555
64884
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB289384_1007874635
N/A
N/A
Control
No previous psychiatric history
4183047
4283616
100570
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
N/A
N/A
Control
No previous psychiatric history
3958895
4183047
224153
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB474177_1007872173
N/A
N/A
Control
No previous psychiatric history
4036397
4107492
71096
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB476893_1007875827
N/A
N/A
Control
No previous psychiatric history
5348966
5394659
45694
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
N/A
N/A
Control
No previous psychiatric history
4093768
4225160
131393
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB563324_1007854121
N/A
N/A
Control
No previous psychiatric history
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
N/A
N/A
Control
No previous psychiatric history
4079225
4121458
42234
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB650197_1007854049
N/A
N/A
Control
No previous psychiatric history
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB688438_1007854058
N/A
N/A
Control
No previous psychiatric history
4079225
4171349
92125
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
N/A
N/A
Control
No previous psychiatric history
4115819
4171349
55531
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB787602_1007874634
N/A
N/A
Control
No previous psychiatric history
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB820039_1007854195
N/A
N/A
Control
No previous psychiatric history
3969792
4252985
283194
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB847353_1007844832
N/A
N/A
Control
No previous psychiatric history
4093768
4124555
30788
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB879170_1007853274
N/A
N/A
Control
No previous psychiatric history
5346859
5394659
47801
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB886417_1007872528
N/A
N/A
Control
No previous psychiatric history
4046892
4107492
60601
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB917455_1007854021
N/A
N/A
Control
No previous psychiatric history
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB943713_1007844029
N/A
N/A
Control
No previous psychiatric history
5348966
5394659
45694
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB951657_1007843871
N/A
N/A
Control
No previous psychiatric history
4138385
4275761
137377
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900023_900023
N/A
N/A
Control
No previous psychiatric history
3858107
4140066
281960
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900145_900145
N/A
N/A
Control
No previous psychiatric history
3962743
4175642
212900
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900190_900190
N/A
N/A
Control
No previous psychiatric history
4051238
4107492
56255
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
N/A
N/A
Control
No previous psychiatric history
4036397
4163939
127543
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900310_900310
N/A
N/A
Control
No previous psychiatric history
3577005
3608555
31551
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900383_900383
N/A
N/A
Control
No previous psychiatric history
4129190
4183047
53858
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900431_900431
N/A
N/A
Control
No previous psychiatric history
4051238
4107492
56255
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900462_900462
N/A
N/A
Control
No previous psychiatric history
3962743
4195664
232922
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
N/A
N/A
Control
No previous psychiatric history
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900768_900768
N/A
N/A
Control
No previous psychiatric history
4032349
4140066
107718
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901034_901034
N/A
N/A
Control
No previous psychiatric history
5041270
5109952
68683
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901075_901075
N/A
N/A
Control
No previous psychiatric history
4079225
4188112
108888
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901188_901188
N/A
N/A
Control
No previous psychiatric history
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902560_902560
N/A
N/A
Control
No previous psychiatric history
4124049
4234996
110948
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
N/A
N/A
Control
No previous psychiatric history
4138385
4271051
132667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902811_902811
N/A
N/A
Control
No previous psychiatric history
4120923
4153881
32959
GRCh38
Deletion
No
glessner_09_ASD_discovery_controls-disccontrol11
NA
Control
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_controls-repcontrol8
NA
Control
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
glessner_09_ASD_replication_controls-repcontrol9
NA
Control
NA
NA
4183047
4219620
36574
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11393.s1
NA
M
Control
NA
NA
4270237
4379098
108862
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11049.s1
9.8
F
Control (matched sibling)
NA
NA
4079225
4087093
7869
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11083.s1
12.9
F
Control (matched sibling)
NA
NA
4051238
4171349
120112
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11220.s1
13.6
F
Control (matched sibling)
NA
NA
4046892
4059672
12781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11284.s1
7.1
F
Control (matched sibling)
NA
NA
4046892
4059672
12781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11390.s1
6.8
F
Control (matched sibling)
NA
NA
3858107
4140066
281960
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
4271051
4388023
116973
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
4115819
4129190
13372
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11483.s1
12.7
M
Control (matched sibling)
NA
NA
4153765
4171349
17585
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11509.s1
20.3
M
Control (matched sibling)
NA
NA
4046892
4196512
149621
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11545.s1
11.2
M
Control (matched sibling)
NA
NA
4014968
4069115
54148
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11700.s1
11
F
Control (matched sibling)
NA
NA
4046892
4059672
12781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12048.s1
10.3
F
Control (matched sibling)
NA
NA
4838582
4857325
18744
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
4120923
4157761
36839
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
4599846
4609817
9972
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12314.s1
8.2
M
Control (matched sibling)
NA
NA
5409915
5430501
20587
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12380.s1
17
F
Control (matched sibling)
NA
NA
4051238
4059672
8435
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12418.s1
11.7
M
Control (matched sibling)
NA
NA
4151816
4157761
5946
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12548.s1
10.2
F
Control (matched sibling)
NA
NA
4209187
4340366
131180
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12610.s1
8.8
F
Control (matched sibling)
NA
NA
4051238
4059672
8435
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12653.s1
8.5
F
Control (matched sibling)
NA
NA
4046892
4059672
12781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12664.s1
7.9
M
Control (matched sibling)
NA
NA
4051238
4059672
8435
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12674.s1
4.6
F
Control (matched sibling)
NA
NA
4046892
4059672
12781
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12865.s1
5.8
M
Control (matched sibling)
NA
NA
4003518
4063894
60377
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13012.s1
4.3
F
Control (matched sibling)
NA
NA
3924671
3993759
69089
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13128.s1
8.8
M
Control (matched sibling)
NA
NA
4295321
4304082
8762
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
celestino-soper_11_ASD_discovery_cases-11046
Solid phase hybridization (Illumina 1M SNP), qPCR
De novo
Simplex
NA
MRPS10P2,ITPR1-DT,SETMAR,EGOT,ITPR1,SUMF1
christian_08_ASD_discovery_cases-AU005303
FISH, microsatellite
inherited
Multiplex
NA
LRRN1,SUMF1
davis_09_ASD_discovery_cases-AU005303
qPCR
Paternal
Multiplex
Segregated
LRRN-1
engchuan_15_ASD_discovery_cases-case1020_4
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case1208_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case13093_1103
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case14048_830
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case14058_1000
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case14138_2360
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case14319_3030
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case14327_4410
Unknown
PNPT1P1,SUMF1
engchuan_15_ASD_discovery_cases-case14339_4530
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case16058_1571037001
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case20020_1104001
Unknown
engchuan_15_ASD_discovery_cases-case2300_1
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case3211_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case3432_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case3517_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case3582_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case4188_1
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case4222_1
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case4235_1
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case4236_1
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case4335_1
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case4424_1
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case4541_1
Unknown
engchuan_15_ASD_discovery_cases-case5056_4
Unknown
SETMAR,SUMF1
engchuan_15_ASD_discovery_cases-case5220_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case5296_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case5449_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case5559_4
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case6022_7
Unknown
PNPT1P1,SUMF1
engchuan_15_ASD_discovery_cases-case6175_6
Unknown
PNPT1P1,SUMF1
engchuan_15_ASD_discovery_cases-case6254_3
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case8612_201
Unknown
SUMF1
engchuan_15_ASD_discovery_cases-case8723_201
Unknown
SUMF1
gai_11_ASD_discovery_cases-AU1493301
Inherited
SUMF1 intronic
gai_11_ASD_discovery_cases-AU1616301
Inherited
SUMF1 intronic
gai_11_ASD_replication_cases-AU004904
Inherited
SUMF1 intronic
gai_11_ASD_replication_cases-AU005303
Inherited
SUMF1, LRRN1
gai_11_ASD_replication_cases-AU005304
Inherited
SUMF1, LRRN1
gai_11_ASD_replication_cases-AU048206
Inherited
SUMF1
gai_11_ASD_replication_cases-AU074503
Inherited
SUMF1
girirajan_13a_ASD_discovery_cases-11046.p1
Unknown
Simplex
Unknown
MRPS10P2,ITPR1-DT,SETMAR,EGOT,ITPR1,SUMF1
girirajan_13a_ASD_discovery_cases-AU005303
Unknown
Multiplex
Unknown
LRRN1,SUMF1
glessner_09_ASD_discovery_cases-AU074503
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_discovery_cases-C209603
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_discovery_cases-M201403
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_discovery_cases-Owely_E013
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_replication_cases-AU037104
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_replication_cases-AU045514
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_replication_cases-AU057403
Maternal
Multiplex
Segregated
SUMF1
glessner_09_ASD_replication_cases-AU057404
qPCR
Maternal
Multiplex
Segregated
SUMF1
glessner_09_ASD_replication_cases-AU057405
qPCR
Maternal
Multiplex
Segregated
SUMF1
glessner_09_ASD_replication_cases-AU064704
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_replication_cases-AU073003
Paternal
Multiplex
Not segregated
SUMF1
glessner_09_ASD_replication_cases-AU073005
qPCR
Paternal
Multiplex
Not segregated
SUMF1
glessner_09_ASD_replication_cases-AU1086302
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_replication_cases-AU1444301
Maternal
Multiplex
Segregated
SUMF1
glessner_09_ASD_replication_cases-AU1444302
Maternal
Multiplex
Segregated
SUMF1
itsara_10_ASD_discovery_cases-HI0700
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
PNPT1P1,SUMF1
kalsner_17_ASD_discovery_cases-case14
Unknown
Unknown
Unknown
CNTN4-AS1,CNTN4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002278
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNF10P1,UBTFL8,MIR4790,RN7SL553P,EGOT,BHLHE40-AS1,ARL8B,EDEM1,ITPR1,BHLHE40
krumm_15_ASD_discovery_cases-case12447.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
IL5RA
levy_11_ASD_discovery_cases-11046.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
levy_11_ASD_discovery_cases-11046.p1
aCGH (Agilent 244K)
De novo
Simplex
Segregated
MRPS10P2,ITPR1-DT,SETMAR,EGOT,ITPR1,SUMF1
levy_11_ASD_discovery_cases-11393.p1
Paternal
Simplex
Not segregated
SETMAR,SUMF1
marshall_08_ASD_discovery_cases-SK0283-003
qPCR, qmPCR
Unknown
NA
NA
pinto_10_ASD_discovery_cases-case1020_4
Illumina550
paternal
NA
NA
SUMF1
pinto_10_ASD_discovery_cases-case3211_003
LR-PCR
paternal
Multiplex
Unknown
SUMF1
pinto_10_ASD_discovery_cases-case3319_003
LR-PCR
maternal
Multiplex
Not segregated
SUMF1
pinto_10_ASD_discovery_cases-case5056_4
Agilent1M
maternal
Multiplex
NA
SETMAR,SUMF1
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase7
BACs aCGH or FISH
Maternal
Unknown
Unknown
PNPT1P1,MRPS10P2,ITPR1-DT,SETMAR,EGOT,BHLHE40-AS1,ITPR1,SUMF1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1645-0
Not tested by qPCR
Unknown
Unknown
Unknown
SUMF1
sanders_11_ASD_discovery_cases-11046.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MRPS10P2,ITPR1-DT,SETMAR,EGOT,ITPR1,SUMF1
sanders_11_ASD_discovery_cases-11083.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-11156.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MIR4790,RN7SL553P
sanders_11_ASD_discovery_cases-11283.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
SUMF1
sanders_11_ASD_discovery_cases-11284.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-11325.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PNPT1P1,SUMF1
sanders_11_ASD_discovery_cases-11390.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PNPT1P1,SUMF1
sanders_11_ASD_discovery_cases-11393.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SETMAR,SUMF1
sanders_11_ASD_discovery_cases-11398.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-11465.p1
Maternal
Simplex (trio)
NA
SUMF1
sanders_11_ASD_discovery_cases-11472.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-11483.p1
Maternal
Simplex (quad-proband matched)
Segregated
RNF10P1,UBTFL8,ARL8B,EDEM1
sanders_11_ASD_discovery_cases-11506.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11573.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-11700.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-11731.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-12009.p1
Paternal
Simplex (trio)
NA
SUMF1
sanders_11_ASD_discovery_cases-12210.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-12233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ITPR1
sanders_11_ASD_discovery_cases-12380.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-12418.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-12484.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
SUMF1
sanders_11_ASD_discovery_cases-12664.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-12674.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-12865.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SUMF1
sanders_11_ASD_discovery_cases-13006.p1
Unknown
Simplex (quad-proband matched)
Not segregated
ITPR1
sanders_11_ASD_discovery_cases-13012.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PNPT1P1,SUMF1
sanders_11_ASD_discovery_cases-13128.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SETMAR,SUMF1
sanders_11_ASD_discovery_cases-13294.p1
Maternal
Simplex (trio)
NA
SUMF1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036015360_
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB289384_1007874635
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB391985_1007840230
Unknown
PNPT1P1,SUMF1
engchuan_15_ASD_discovery_controls-controlB474177_1007872173
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB476893_1007875827
Unknown
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB563324_1007854121
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB627204_1007846383
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB650197_1007854049
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB688438_1007854058
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB769378_0067942579
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB787602_1007874634
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB820039_1007854195
Unknown
PNPT1P1,SUMF1
engchuan_15_ASD_discovery_controls-controlB847353_1007844832
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB879170_1007853274
Unknown
engchuan_15_ASD_discovery_controls-controlB886417_1007872528
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB917455_1007854021
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlB943713_1007844029
Unknown
engchuan_15_ASD_discovery_controls-controlB951657_1007843871
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900023_900023
Unknown
PNPT1P1,SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900145_900145
Unknown
PNPT1P1,SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900190_900190
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900201_900201
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900310_900310
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900383_900383
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900431_900431
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900462_900462
Unknown
PNPT1P1,SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900638_900638
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_900768_900768
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_901034_901034
Unknown
RNF10P1,UBTFL8
engchuan_15_ASD_discovery_controls-controlHABC_901075_901075
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_901188_901188
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_902560_902560
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_902724_902724
Unknown
SUMF1
engchuan_15_ASD_discovery_controls-controlHABC_902811_902811
Unknown
SUMF1
glessner_09_ASD_discovery_controls-disccontrol11
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_replication_controls-repcontrol8
Unknown
Unknown
NA
SUMF1
glessner_09_ASD_replication_controls-repcontrol9
Unknown
Unknown
NA
SUMF1
levy_11_ASD_discovery_controls-11393.s1
Paternal
Simplex
NA
SETMAR,SUMF1
sanders_11_ASD_discovery_controls-11049.s1
Maternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-11083.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-11220.s1
Maternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-11284.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-11390.s1
Maternal
Simplex (quad)
NA
PNPT1P1,SUMF1
sanders_11_ASD_discovery_controls-11393.s1
Paternal
Simplex (quad)
NA
SETMAR,SUMF1
sanders_11_ASD_discovery_controls-11399.s1
Maternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-11483.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-11509.s1
Maternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-11545.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-11700.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-12048.s1
Unknown
Simplex (quad)
NA
ITPR1
sanders_11_ASD_discovery_controls-12083.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-12233.s1
Paternal
Simplex (quad)
NA
ITPR1
sanders_11_ASD_discovery_controls-12314.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12380.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-12418.s1
Both parents
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-12548.s1
Maternal
Simplex (quad)
NA
SETMAR,SUMF1
sanders_11_ASD_discovery_controls-12610.s1
Maternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-12653.s1
Maternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-12664.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-12674.s1
Paternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-12865.s1
Maternal
Simplex (quad)
NA
SUMF1
sanders_11_ASD_discovery_controls-13012.s1
Maternal
Simplex (quad)
NA
PNPT1P1,SUMF1
sanders_11_ASD_discovery_controls-13128.s1
Maternal
Simplex (quad)
NA
SETMAR,SUMF1
No Animal Model Data Available