19q12CNV Type: Deletion-Duplication
Largest CNV size: 900000 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
caubit_16_ASD/ID_discovery_cases
Seven patients from six unrelated families with 19q12-q13.11 deletions that included the TSHZ3 gene but not the 19q13.11 syndrome critical region
7
5/7 cases present with ASD
N/A
57.14% Male
2400000
5
0
5
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
900000
0
1
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
1680000
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
212318
3
1
4
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
1209759
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
811516
0
2
2
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
78890
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
69442
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
73610
1
1
2
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
321202
14
24
38
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
67666
1
0
1
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
900000
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
2211678
2
4
6
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
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
78890
0
0
0
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
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)
73610
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.
321202
9
20
29
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
67666
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
caubit_16_ASD/ID_discovery_cases
N/A
N/A
Discovery platform N/A
Not reported
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
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
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
larson_17_ASD_discovery_controls
N/A
N/A
N/A
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
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
caubit_16_ASD/ID_discovery_cases-case1
N/A
F
Speech delay and autistic features
Birth/neonatal history: neonatal feeding difficulty. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: stereotypical gestures, attentiveness disorder, echolalia. Additional medical history: pyelocalyceal dilatation. Growth parameters: postnatal growth retardation.
Cognitive dysexecutive trouble, reasoning, limitations in adaptive behavior, memory deficit
N/A
N/A
2400000
GRCh37
Deletion
No
caubit_16_ASD/ID_discovery_cases-case3a
N/A
M
ASD
Birth/neonatal history: neonatal feeding difficulty. Developmental milestones: developmental delay. Behavioral/psychiatric evaluation: atypical autism. Growth parameters: postnatal growth retardation.
N/A
N/A
1060000
GRCh37
Deletion
No
caubit_16_ASD/ID_discovery_cases-case3b
N/A
M
Feeding difficulties and growth retardation
Birth/neonatal history: neonatal feeding difficulty. Growth parameters: postnatal growth retardation.
N/A
N/A
1060000
GRCh37
Deletion
No
caubit_16_ASD/ID_discovery_cases-case6
N/A
F
ASD
Birth/neonatal history: neonatal feeding difficulty. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: autism.
N/A
N/A
460000
GRCh37
Deletion
No
caubit_16_ASD/ID_discovery_cases-case7
N/A
F
ASD
Birth/neonatal history: neonatal feeding difficulty. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: ASD, autoaggressive behavior requiring neuroleptics. Additional medical history: vesicoureteral reflux grade 2. Dysmorphic features: 5th finger clinodactyly.
Cognitive impairment
31274975
31321490
46516
GRCh38
Deletion
No
christian_08_ASD_discovery_cases-AU027604
NA
F
ASD
NA
NA
27405788
28314345
908558
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_299791
N/A
M
ASD, ID, and epilepsy/seizures
Autism, behavioral abnormality, seizures
Severe intellectual disability
29211673
30892034
1680362
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case18171_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28002055
28214373
212319
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4392_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28256327
28385094
128768
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6280_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
28573533
28720542
147010
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8636_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
29766252
29874596
108345
GRCh38
Duplication
No
fitzgerald_14_ASD/DD/ID_discovery_cases-case000016
N/A
N/A
N/A
Clinical profile N/A; CNV from Supplementary Table S20
N/A
30204346
31414106
1209761
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004354
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27362299
27940935
578637
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004439
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
27362299
28173816
811518
GRCh38
Duplication
Yes
larson_17_ASD_discovery_cases-case2
N/A
F
ASD and psychosis
Female, above average IQ, age of onset 20s, atypical psychosis (no consensus diagnosis), no family history (fourth unique CNV for this individual. CNV not reported in DGV.
Above average IQ
29483406
29562296
78891
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0121-003
NA
M
ASD
NA
NA
28510616
28580058
69443
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case165450L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
34830823
34841389
10567
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case91085L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
33691997
33765606
73610
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11152.p1
6.7
M
Autism
NA
Full-scale IQ, 57; non-verbal IQ, 61; verbal IQ, 57
27272532
27402753
130222
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
27253973
27371786
117814
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11333.p1
9.8
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 53
27436482
27568550
132069
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11339.p1
10
F
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 62; verbal IQ, 93
30608682
30613672
4991
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11357.p1
9.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 112; verbal IQ, 91
27272532
27496316
223785
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11498.p1
7.3
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 102; verbal IQ, 110
27272532
27496316
223785
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11644.p1
17
M
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
27253973
27496316
242344
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11681.p1
5.1
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 84; verbal IQ, 85
28720494
28720542
49
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11698.p1
8.4
F
Autism
NA
Full-scale IQ, 113; non-verbal IQ, 110; verbal IQ, 117
28708870
28720542
11673
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11734.p1
13.8
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 81; verbal IQ, 95
27805500
27827580
22081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11868.p1
7.9
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 91; verbal IQ, 86
27805500
27827580
22081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11914.p1
7.1
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 81; verbal IQ, 91
28720494
28720542
49
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11931.p1
6.6
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
27253973
27575175
321203
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12009.p1
6.8
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
27253973
27318338
64366
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12050.p1
5.5
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 64
27436482
27481645
45164
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12052.p1
7.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
27272532
27310906
38375
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12073.p1
5.9
F
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
27253973
27352224
98252
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12115.p1
12.1
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
27253973
27318338
64366
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
27436482
27496316
59835
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12119.p1
5.2
M
Autism
NA
Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
27253973
27352224
98252
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12152.p1
8.5
M
Autism
NA
Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
27805500
27827580
22081
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12173.p1
7.2
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 92; verbal IQ, 93
28619911
28630021
10111
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12240.p1
8.9
M
ASD
NA
Full-scale IQ, 91; non-verbal IQ, 86; verbal IQ, 104
27402753
27442966
40214
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12261.p1
16.3
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 95; verbal IQ, 73
27253973
27481645
227673
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12279.p1
4.1
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
31381364
31387176
5813
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12341.p1
13.8
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 114
27253973
27352224
98252
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12343.p1
6.2
F
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 42; verbal IQ, 18
27253973
27352224
98252
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12379.p1
7.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
31749403
31757947
8545
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12505.p1
5.3
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 87; verbal IQ, 48
27496316
27522121
25806
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12742.p1
4.8
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 103; verbal IQ, 106
28720494
28720542
49
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12790.p1
7.9
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
27287920
27352224
64305
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
27442966
27496316
53351
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12984.p1
10.1
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 102; verbal IQ, 96
27253973
27496316
242344
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13015.p1
5.3
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
27253973
27496316
242344
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
27436482
27496316
59835
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
27253973
27496316
242344
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13303.p1
5.6
F
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
28756376
28804088
47713
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13337.p1
5.1
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
27805500
27827580
22081
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case548
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
29945501
30013166
67666
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-control110036019727_
N/A
N/A
Control
No previous psychiatric history
28367455
29036352
668898
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB384949_1007853872
N/A
N/A
Control
No previous psychiatric history
27545836
27613351
67516
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB928566_1007844750
N/A
N/A
Control
No previous psychiatric history
27272532
29484211
2211680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901079_901079
N/A
N/A
Control
No previous psychiatric history
27657865
27773931
116067
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
N/A
N/A
Control
No previous psychiatric history
29093783
29126526
32744
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
N/A
N/A
Control
No previous psychiatric history
27333180
28385094
1051915
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11023.s1
10.4
F
Control (matched sibling)
NA
NA
27272532
27496316
223785
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11054.s1
10.5
M
Control (matched sibling)
NA
NA
27448125
27496316
48192
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11114.s1
11.6
F
Control (matched sibling)
NA
NA
27805500
27821292
15793
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11258.s1
10.8
F
Control (matched sibling)
NA
NA
27272532
27344155
71624
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11374.s1
18.1
F
Control (matched sibling)
NA
NA
28708870
28720542
11673
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11378.s1
11.2
M
Control (matched sibling)
NA
NA
27272532
27510779
238248
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11395.s1
3.5
M
Control (matched sibling)
NA
NA
27272532
27496316
223785
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11399.s1
13.3
M
Control (matched sibling)
NA
NA
27470673
27496316
25644
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11561.s1
8.9
M
Control (matched sibling)
NA
NA
27272532
27496316
223785
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11711.s1
7
M
Control (matched sibling)
NA
NA
27253973
27352224
98252
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11792.s1
8.6
M
Control (matched sibling)
NA
NA
27253973
27570475
316503
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11868.s1
5.2
F
Control (matched sibling)
NA
NA
27805500
27827580
22081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11942.s1
14.6
M
Control (matched sibling)
NA
NA
27253973
27575175
321203
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
27436482
27496316
59835
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
27253973
27352224
98252
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12036.s1
5.9
F
Control (matched sibling)
NA
NA
27805500
27827580
22081
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12060.s1
10.6
F
Control (matched sibling)
NA
NA
27278809
27310906
32098
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
27432927
27496316
63390
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12073.s1
7.3
F
Control (matched sibling)
NA
NA
27253973
27352224
98252
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12274.s1
7.6
F
Control (matched sibling)
NA
NA
28000968
28066003
65036
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12320.s1
23.3
F
Control (matched sibling)
NA
NA
27253973
27348545
94573
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12790.s1
8.9
F
Control (matched sibling)
NA
NA
27253973
27348545
94573
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12852.s1
6.3
M
Control (matched sibling)
NA
NA
27253973
27496316
242344
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12901.s1
4.1
M
Control (matched sibling)
NA
NA
28095954
28113798
17845
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
27368659
27448125
79467
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
27253973
27352224
98252
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13175.s1
13.7
F
Control (matched sibling)
NA
NA
27253973
27496316
242344
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13216.s1
6
M
Control (matched sibling)
NA
NA
27253973
27496316
242344
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13222.s1
13.5
F
Control (matched sibling)
NA
NA
27253973
27337756
83784
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
caubit_16_ASD/ID_discovery_cases-case1
None reported
De novo
Likely segregated
CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
caubit_16_ASD/ID_discovery_cases-case3a
None reported
Maternal
Multiplex
Likely segregated
CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
caubit_16_ASD/ID_discovery_cases-case3b
None reported
Maternal
Multiplex
Likely segregated
CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
caubit_16_ASD/ID_discovery_cases-case6
None reported
Paternal
Unknown
CNV gene content N/A due to lack of defined start and end points but does contain at least part of the TSHZ3 gene (minimal region of overlap of chr19:31765881-31812396; hg19)
caubit_16_ASD/ID_discovery_cases-case7
None reported
Unknown
Unknown
TSHZ3
christian_08_ASD_discovery_cases-AU027604
FISH, microsatellite
inherited
Multiplex
NA
SLC25A1P5,ERVK-28,LINC00662
digregorio_17_DD/ID_discovery_cases-DECIPHER_299791
qPCR
De novo
RN7SL340P,PPIAP58,RPL9P32,TAF9P3,UQCRFS1,VSTM2B,POP4,PLEKHF1,C19orf12,CCNE1,URI1,ZNF536
engchuan_15_ASD_discovery_cases-case18171_302
Unknown
engchuan_15_ASD_discovery_cases-case4392_1
Unknown
engchuan_15_ASD_discovery_cases-case6280_3
Unknown
engchuan_15_ASD_discovery_cases-case8636_201
Unknown
CCNE1
fitzgerald_14_ASD/DD/ID_discovery_cases-case000016
De novo
Unknown
Unknown
LINC01834,LINC01791,TSHZ3,ZNF536
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004354
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SLC25A1P5,ERVK-28,LINC00662
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004439
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
SLC25A1P5,ERVK-28,LINC00662
larson_17_ASD_discovery_cases-case2
Unknown
Simplex
Unknown
VSTM2B
marshall_08_ASD_discovery_cases-SK0121-003
qPCR, qmPCR
Unknown
NA
NA
prasad_12_ASD_discovery_cases-case165450L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case91085L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11152.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11333.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11339.p1
Maternal
Simplex (quad-proband matched)
Segregated
ZNF536
sanders_11_ASD_discovery_cases-11357.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11498.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11644.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11681.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11698.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11734.p1
Paternal
Simplex (trio)
NA
SLC25A1P5
sanders_11_ASD_discovery_cases-11868.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC25A1P5
sanders_11_ASD_discovery_cases-11914.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11931.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12009.p1
Unknown
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12050.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12052.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12073.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12115.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12119.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12119.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12152.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SLC25A1P5
sanders_11_ASD_discovery_cases-12173.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12240.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12261.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12279.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12341.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12343.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12379.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12505.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12742.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12790.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12939.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12984.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13015.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13016.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13175.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13303.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MAN1A2P1
sanders_11_ASD_discovery_cases-13337.p1
Maternal
Simplex (trio)
NA
SLC25A1P5
yin_16_ASD_discovery_cases-case548
Unknown
Unknown
Unknown
RPL9P32,URI1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019727_
Unknown
MAN1A2P1,RNA5SP470,LINC01532,LINC00906
engchuan_15_ASD_discovery_controls-controlB384949_1007853872
Unknown
engchuan_15_ASD_discovery_controls-controlB928566_1007844750
Unknown
SLC25A1P5,MAN1A2P1,RNA5SP470,LINC01532,RN7SL340P,ERVK-28,UQCRFS1,LINC00662,LINC00906
engchuan_15_ASD_discovery_controls-controlHABC_901079_901079
Unknown
LINC00662
engchuan_15_ASD_discovery_controls-controlHABC_902642_902642
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
Unknown
SLC25A1P5,ERVK-28,LINC00662
sanders_11_ASD_discovery_controls-11023.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11054.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11114.s1
Paternal
Simplex (quad)
NA
SLC25A1P5
sanders_11_ASD_discovery_controls-11258.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11374.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11378.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11395.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11399.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11561.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11711.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11792.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11868.s1
Maternal
Simplex (quad)
NA
SLC25A1P5
sanders_11_ASD_discovery_controls-11942.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11948.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11948.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12036.s1
Maternal
Simplex (quad)
NA
SLC25A1P5
sanders_11_ASD_discovery_controls-12060.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12073.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12073.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12274.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12320.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12790.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12852.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12901.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13076.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13175.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13216.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13222.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available