20q12CNV Type: Deletion-Duplication
Largest CNV size: 264000 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
Summary Information
CNVs at this locus frequently reside within or contain at least part of the PTPRT gene.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Rare Copy Number Variations in a Chinese Cohort of Autism Spectrum Disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
174000
2
0
2
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
196213
2
0
2
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
125170
1
0
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
52079
0
1
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
264000
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
97725
1
0
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
130000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
192464
12
1
13
fan_19_ASD_discovery_cases
Chinese individuals recruited from July 2014 to December 2017 from the Developmental and Behavioral Clinic at Xinhua Hospital and Shanghai Children's Medical Center
401
Cases diagnosed with ASD (DSM-5, ADOS, CARS)
Range, 1 year 5 months-17 years
83.54% Male
173000
1
0
1
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
82994
1
3
4
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
77162
1
0
1
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)
177754
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
646096
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
80350
0
1
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
199845
4
0
4
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
90071
2
0
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
35872
1
0
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
132611
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
19033
2
0
2
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
177608
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
197385
7
0
7
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
287567
2
1
3
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
190005
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
53399
1
0
1
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
196213
1
0
1
brandler_18_ASD_replication_controls
Unaffected individuals from the Simons Simplex 2 (SSC2) cohort (584 controls from simplex quad families)
584
Control (unaffected siblings from simplex quad families)
N/A
N/A
125170
1
0
1
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
264000
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
96066
12
0
12
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
246766
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
798985
0
1
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
30423
1
0
1
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
829063
0
1
1
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
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)
19033
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.
823668
7
1
8
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
287567
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
None
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
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fan_19_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
ChAS
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
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)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
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
qPCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
battaglia_13_DD/ID/ASD_discovery_cases-case39
7 yrs. 10 mos.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
42634704
42727034
92331
GRCh38
Deletion
Yes
battaglia_13_DD/ID/ASD_discovery_cases-case68
8 yrs. 10 mos.
M
PDD-NOS, developmental delay/intellectual disability, and epilepsy
Autism: yes (PDD-NOS). Epilepsy: yes. Dysmorphic features: yes.
Severe DD/ID
42450965
42624440
173476
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC03070
N/A
F
ASD
Case from SSC_phase1 cohort
42545307
42741520
196214
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC11852
N/A
M
ASD
Case from SSC_phase1 cohort
42427904
42471302
43399
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseSSC03350
N/A
M
ASD
Case from SSC_phase2 cohort
42642312
42767481
125170
GRCh38
Deletion
No
chehbani_22_ASD_discovery_cases-case72
NA
M
ASD
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
42851430
42903508
52079
GRCh38
Duplication
No
christian_08_ASD_discovery_cases-AU018704
NA
F
ASD
NA
NA
42974205
43238467
264263
GRCh38
Duplication
Yes
cucinotta_23_ASD_discovery_cases-case391
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
42551909
42649633
97725
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296418
N/A
M
ASD and ID
Autism, facial dysmorphic features
Severe intellectual disability
42755796
42885952
130157
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13005_63
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14220_3530
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42512433
42555697
43265
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14302_4230
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2165_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42574190
42766654
192465
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3177_6
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3519_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40099937
40269015
169079
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4028_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5049_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5380_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42578725
42614596
35872
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5451_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42547930
42614596
66667
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5457_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6335_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42578725
42614596
35872
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6372_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42838307
42879571
41265
GRCh38
Deletion
No
fan_19_ASD_discovery_cases-caseASD114
2 yrs. 6 mos.
F
ASD
CARS score 39 (severe severity)
42524745
42697487
172743
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU073003
Autism
40591121
40662152
71032
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU073005
Autism
40591121
40674114
82994
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU073006
Autism
40591121
40664177
73057
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU0941301
Autism
40442152
40479224
37073
Unknown
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY45
3 yrs. 5 mos.
M
ASD and intellectual disability
Intellectual disability
42743027
42820188
77162
GRCh38
Deletion
No
itsara_10_ASD_discovery_cases-HI4139
NA
NA
Autism
NA
NA
42291295
42469049
177755
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001777
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
41822419
42468515
646097
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002269
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
42560011
42713556
153546
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13962.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
41345803
41426153
80351
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0115
17 yrs.
M
ASD
No additional clinical information reported for this individual. Family history: unknown.
42461895
42648116
186222
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0125
15 yrs.
M
ASD
No additional clinical information reported for this individual. Family history: unknown.
42579501
42691367
111867
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD0536
11 yrs.
M
ASD
No additional clinical information reported for this individual. Family history: unknown.
42303583
42488707
185125
GRCh38
Deletion
N/A
kushima_18_ASD_discovery_cases-caseASD1112
25 yrs.
M
ASD
No additional clinical information reported for this individual. Family history: unknown.
42526267
42726111
199845
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ1318
40 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
42472130
42562200
90071
GRCh38
Deletion
N/A
kushima_18_SCZ_discovery_cases-caseSCZ2360
65 yrs.
M
Schizophrenia
No additional clinical information reported for this individual. Family history: unknown.
42232174
42274201
42028
GRCh38
Deletion
N/A
pinto_10_ASD_discovery_cases-case5380_3
NA
M
ASD
NA
NA
42578725
42614596
35872
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case05HI4139A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1234302; NDAR ID NDAR_INVNR080GC6)
42315721
42448331
132611
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case146454L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
40599712
40618744
19033
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case63167L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
40599712
40618744
19033
Unknown
Deletion
No
rosenfeld_10_ASD_discovery_cases-case20660
NA
NA
ASD
NA
NA
39499911
39677519
177608
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11002.p1
7.7
F
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 111; verbal IQ, 80
42545465
42742850
197386
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11017.p1
4.3
M
Autism
NA
Full-scale IQ, 132; non-verbal IQ, 136; verbal IQ, 116
42553671
42624359
70689
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11554.p1
6.5
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
42560363
42628816
68454
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11609.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
42582106
42614596
32491
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11723.p1
6.9
M
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 105
42645023
42766654
121632
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
42628816
42648165
19350
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
42559678
42657403
97726
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case586
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
41489265
41776831
287567
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case587
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
42605461
42612212
6752
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case588
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
42605461
42612212
6752
GRCh38
Deletion
No
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD109-1648
N/A
F
OCD
Primary diagnosis: OCD. Additional phenotype(s): Phobia, social anxiety, generalized anxiety, polycystic ovary syndrome (and family history of this disease)
42530596
42720600
190005
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10469
N/A
F
Control
Control
42574253
42627651
53399
GRCh38
Deletion
No
brandler_18_ASD_discovery_controls-controlSSC03093
N/A
M
Control
Control from SSC_phase1 cohort
42545307
42741520
196214
GRCh38
Deletion
Yes
brandler_18_ASD_replication_controls-controlSSC03371
N/A
F
control
Control from SSC_phase2 cohort
42642312
42767481
125170
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036015501_
N/A
N/A
Control
No previous psychiatric history
42556884
42638302
81419
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB170881_1007854327
N/A
N/A
Control
No previous psychiatric history
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB276080_1007853614
N/A
N/A
Control
No previous psychiatric history
42574190
42656142
81953
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB394441_1007874856
N/A
N/A
Control
No previous psychiatric history
42500314
42596380
96067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB402156_0067942641
N/A
N/A
Control
No previous psychiatric history
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB531181_1007853595
N/A
N/A
Control
No previous psychiatric history
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB624090_1007853967
N/A
N/A
Control
No previous psychiatric history
41687256
41777886
90631
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB781862_1007846109
N/A
N/A
Control
No previous psychiatric history
42553671
42614596
60926
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900128_900128
N/A
N/A
Control
No previous psychiatric history
42550218
42614596
64379
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900209_900209
N/A
N/A
Control
No previous psychiatric history
42624265
42663872
39608
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
N/A
N/A
Control
No previous psychiatric history
42547724
42614596
66873
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902589_902589
N/A
N/A
Control
No previous psychiatric history
42547930
42614596
66667
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1069
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
40906498
41153263
246766
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split797
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
41233308
41278325
45018
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control12540.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
41437273
42236258
798986
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON0831
45 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
42760476
42790898
30423
GRCh38
Deletion
N/A
levy_11_ASD_discovery_controls-12540.s1
NA
F
Control
NA
NA
41429867
42258929
829063
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11002.s1
10.4
M
Control (matched sibling)
NA
NA
42545465
42736610
191146
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11135.s1
12.9
F
Control (matched sibling)
NA
NA
42624265
42640681
16417
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
42628816
42649685
20870
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11723.s1
4.5
F
Control (matched sibling)
NA
NA
42645023
42766654
121632
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
42628816
42649685
20870
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12202.s1
8
M
Control (matched sibling)
NA
NA
42550218
42614596
64379
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12235.s1
6.7
M
Control (matched sibling)
NA
NA
42593840
42650169
56330
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12540.s1
4.5
F
Control (matched sibling)
NA
NA
41432368
42256036
823669
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case39
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
PTPRT
battaglia_13_DD/ID/ASD_discovery_cases-case68
FISH or qPCR
Maternal
Maternal
Possible multi-generational
Segregated
PTPRT
brandler_18_ASD_discovery_cases-caseSSC03070
PCR or SNP data validation
Maternal
PTPRT
brandler_18_ASD_discovery_cases-caseSSC11852
PCR or SNP data validation
Maternal
PTPRT
brandler_18_ASD_replication_cases-caseSSC03350
No validation step reported
Paternal
PTPRT
chehbani_22_ASD_discovery_cases-case72
Unknown
Simplex
PTPRT
christian_08_ASD_discovery_cases-AU018704
FISH, microsatellite, qPCR
inherited
Multiplex
NA
RN7SKP100,RN7SL666P,PPIAP21,PTPRT
cucinotta_23_ASD_discovery_cases-case391
Maternal
PTPRT
digregorio_17_DD/ID_discovery_cases-DECIPHER_296418
qPCR
Maternal
PTPRT
engchuan_15_ASD_discovery_cases-case13005_63
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case14220_3530
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case14302_4230
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case2165_1
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case3177_6
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case3519_3
Unknown
engchuan_15_ASD_discovery_cases-case4028_1
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case5049_5
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case5380_3
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case5451_3
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case5457_3
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case6335_4
Unknown
PTPRT
engchuan_15_ASD_discovery_cases-case6372_3
Unknown
PTPRT
fan_19_ASD_discovery_cases-caseASD114
Unknown
Unknown
Unknown
PTPRT
gai_11_ASD_replication_cases-AU073003
Inherited
PTPRT (intronic)
gai_11_ASD_replication_cases-AU073005
Inherited
PTPRT (intronic)
gai_11_ASD_replication_cases-AU073006
Inherited
PTPRT (intronic)
gai_11_ASD_replication_cases-AU0941301
Inherited
PTPRT (intronic)
han_22_ASD/DD/ID_discovery_cases-caseY45
Maternal
PTPRT
itsara_10_ASD_discovery_cases-HI4139
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
PTPRT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001777
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PTPRT
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002269
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PTPRT
krumm_15_ASD_discovery_cases-case13962.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
EMILIN3,LPIN3,CHD6
kushima_18_ASD_discovery_cases-caseASD0115
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
PTPRT
kushima_18_ASD_discovery_cases-caseASD0125
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
PTPRT
kushima_18_ASD_discovery_cases-caseASD0536
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Inherited
Unknown
Unknown
PTPRT
kushima_18_ASD_discovery_cases-caseASD1112
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
PTPRT
kushima_18_SCZ_discovery_cases-caseSCZ1318
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
PTPRT
kushima_18_SCZ_discovery_cases-caseSCZ2360
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Unknown
Unknown
PTPRT
pinto_10_ASD_discovery_cases-case5380_3
Agilent1M
maternal
NA
NA
PTPRT
poultney_13_ASD_discovery_cases-case05HI4139A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PTPRT
prasad_12_ASD_discovery_cases-case146454L
Unknown
Unknown
Unknown
PTPRT
prasad_12_ASD_discovery_cases-case63167L
Unknown
Unknown
Unknown
PTPRT
rosenfeld_10_ASD_discovery_cases-case20660
FISH
Paternal
Unknown
Unknown
CHD6
sanders_11_ASD_discovery_cases-11002.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTPRT
sanders_11_ASD_discovery_cases-11017.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTPRT
sanders_11_ASD_discovery_cases-11554.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTPRT
sanders_11_ASD_discovery_cases-11609.p1
Maternal
Simplex (trio)
NA
PTPRT
sanders_11_ASD_discovery_cases-11723.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PTPRT
sanders_11_ASD_discovery_cases-11941.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PTPRT
sanders_11_ASD_discovery_cases-13337.p1
qPCR
De Novo
Simplex (trio)
NA
PTPRT
yin_16_ASD_discovery_cases-case586
Unknown
Unknown
Unknown
RPL12P11,RNU6-1018P,CHD6
yin_16_ASD_discovery_cases-case587
Unknown
Unknown
Unknown
PTPRT
yin_16_ASD_discovery_cases-case588
Unknown
Unknown
Unknown
PTPRT
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-caseOCD109-1648
RT-qPCR or WGS
Unknown
PTPRT
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10469
Unknown
PTPRT
brandler_18_ASD_discovery_controls-controlSSC03093
PCR or SNP data validation
Maternal
PTPRT
brandler_18_ASD_replication_controls-controlSSC03371
No validation step reported
Paternal
PTPRT
engchuan_15_ASD_discovery_controls-control110036015501_
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlB170881_1007854327
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlB276080_1007853614
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlB394441_1007874856
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlB402156_0067942641
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlB531181_1007853595
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlB624090_1007853967
Unknown
engchuan_15_ASD_discovery_controls-controlB781862_1007846109
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlHABC_900128_900128
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlHABC_900209_900209
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
Unknown
PTPRT
engchuan_15_ASD_discovery_controls-controlHABC_902589_902589
Unknown
PTPRT
kanduri_15_ASD_discovery_controls-control_split1069
Unknown
PTPRT
kanduri_15_ASD_discovery_controls-control_split797
Unknown
PTPRT (intronic)
krumm_15_ASD_discovery_controls-control12540.s1
Illumina 1MDuo
Maternal
RPL12P11,RNU6-1018P,CHD6,PTPRT
kushima_18_ASD/SCZ_discovery_controls-controlCON0831
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
PTPRT
levy_11_ASD_discovery_controls-12540.s1
Maternal
Simplex
NA
RPL12P11,RNU6-1018P,CHD6,PTPRT
sanders_11_ASD_discovery_controls-11002.s1
Maternal
Simplex (quad)
NA
PTPRT
sanders_11_ASD_discovery_controls-11135.s1
Maternal
Simplex (quad)
NA
PTPRT
sanders_11_ASD_discovery_controls-11549.s1
Paternal
Simplex (quad)
NA
PTPRT
sanders_11_ASD_discovery_controls-11723.s1
Paternal
Simplex (quad)
NA
PTPRT
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
PTPRT
sanders_11_ASD_discovery_controls-12202.s1
Paternal
Simplex (quad)
NA
PTPRT
sanders_11_ASD_discovery_controls-12235.s1
Paternal
Simplex (quad)
NA
PTPRT
sanders_11_ASD_discovery_controls-12540.s1
Maternal
Simplex (quad)
NA
RPL12P11,RNU6-1018P,CHD6,PTPRT
No Animal Model Data Available