20q11.21CNV Type: Deletion-Duplication
Largest CNV size: 177699 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epile...
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Frequency and Complexity of De Novo Structural Mutation in Autism.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
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
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_16_ASD_discovery_cases
ASD probands primarily referred from clinical departments at Rady's Childrens Hospital (including the Autism Discovery Institute, the Departments of Psychiatry, Neurology, and Speech and Occupational Therapy, and the Developmental Evaluation Clinic); further referrals through project website or the Autism Center of Excellence at the University of California, San Diego (11 trios)
71
Cases had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician.
N/A
N/A
583900
0
1
1
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
542450
0
1
1
cabras_12_ASD/MR/EP_discovery_cases
Patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism, and/or epilepsy
10
ASD, mental retardation (MR), and/or epilepsy (EP)
NA
NA
118000
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
405051
0
2
2
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
21644
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
728055
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
334000
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
2624208
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
1012437
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
4581
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
132820
2
1
3
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
144137
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
76000
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
308636
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
147469
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
177699
9
5
14
simoncini_23_ASD/BPD/ID_discovery_cases
A 24-year-old female proband and four additional affected family members (the proband's monozygotic twin brothers, her sister, and their father), all of whom carried a heterozygous 20q11.21 microduplication affecting the TM9SF4 gene evaluated at the University of Pisa (Pisa, Italy).
5
The proband was diagnosed with autism spectrum disorder (ASD) and bipolar disorder (BPD), her twin brothers were diagnosed with ASD and intellectual disability (ID), and both her sister and their father were diagnosed with bipolar disorder and presented with autistic features.
Range, 24-55 yrs.
60% Male
350435
0
5
5
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
121940
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
105
1
0
1
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
345869
1
4
5
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
728055
NA
NA
NA
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
76877
0
1
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
220247
0
1
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
12152
1
0
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)
208004
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
40901
6
2
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
121940
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_16_ASD_discovery_cases
N/A
WGS
Illumina HiSeq
ForestSV
gtCNV
Solid phase hybridization (Illumina 2.5M)
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
cabras_12_ASD/MR/EP_discovery_cases
European
aCGH
BACs aCGH (Cytochips Bluegnome)
Bluefuse Cytochip software
FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
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
simoncini_23_ASD/BPD/ID_discovery_cases
Italy
aCGH
Agilent 60K
Agilent Feature Extraction
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
brandler_18_ASD_replication_controls
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
brandler_16_ASD_discovery_cases_caseREACH000141
N/A
M
ASD
Case had an existing diagnosis of ASD and received a diagnosis of ASD on the basis of an evaluation by a licensed clinician
31216371
31800297
583927
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_cases-caseREACH000141
N/A
M
ASD
Case from REACH cohort
31257848
31800297
542450
GRCh38
Duplication
Yes
cabras_12_ASD/MR/EP_discovery_cases-case3
14 yrs.
F
Mental retardation and epilepsy
Epilepsy
Mental retardation
31629463
31748213
118000
Unknown
Duplication
Yes
engchuan_15_ASD_discovery_cases-case14072_1250
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31216463
31332596
116134
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4043_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
31269305
31674356
405052
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case530-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
33400351
33421995
21645
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case21414
2 yrs.
F
Developmental delay
Mild motor delay, speech delay, hoarse voice. Normal tone. Dysmorphic features: periorbital fullness, flat nasal bridge, upturned nose, bilateral epicanthal folds, stellate irides, wide-spaced small teeth, full lower lips. Congenital anomalies: congenital heart defects (supravulvular aortic and pulmonic stenosis, hypoplastic pulmonary arteries, moderate mitral valve prolapse (MVP), ventricular hypertrophy. Other features: ankyloglossia, deceased after a post-surgical stroke. Growth parameters: weight 25th-50th %ile, height 75th %ile, OFC 5th-10th %ile. Family history: brother with mild speech delay; father with tall stature, learning disability, manic depressive illness and MVP.
Developmental delay
31277697
32005752
728056
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-AU1361302
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
31248536
31578536
330001
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case3
7 yrs.
NA
Intellectual disability
Facial dysmorphisms
Mild intellectual disability
30184894
33429237
3244344
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004394
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
31289875
32302312
1012438
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11872.p1
N/A
F
ASD
ASD proband from SSC quad family 11872. SRS score of 88.
Full-scale IQ (FSIQ) score of 62.
31945806
31950387
4582
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11909.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
31257663
31390483
132821
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12597.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33097616
33103045
5430
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13676.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
31257660
31303455
45796
GRCh38
Deletion
Yes
mosrati_12_ASD/MR_discovery_cases-caseV5
26 yrs.
M
Autistic traits
Behavioral and psychiatric evaluation: autistic traits reminiscent of Asperger syndrome. Language and communication evaluation: no oral speech; able to have coherent hand-sign conservation with mother and unaffected brother. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; brother with autistic traits, mental retardation, and hearing loss; sister with mental retardation and hearing loss (no autistic traits).
No mental retardation
30669432
30813569
144137
Unknown
Deletion
No
nava_13_ASD_discovery_cases-Fam976Proband10747
N/A
F
ASD
Additional clinical profile info N/A
ID
31255379
31331495
76117
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3933A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1361301; NDAR ID NDAR_INVXU469UFV)
31257662
31566297
308636
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case20963
NA
NA
ASD
NA
NA
29297619
29445088
147469
Unknown
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case8586
NA
NA
ASD
NA
NA
29493206
29625922
132716
Unknown
Duplication
Yes
sanders_11_ASD_discovery_cases-11045.p1
8.3
F
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
31454162
31465452
11291
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11301.p1
9.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 104; verbal IQ, 96
31454162
31459854
5693
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
31454162
31459854
5693
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11845.p1
5.2
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 56; verbal IQ, 38
31890473
31893895
3423
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11909.p1
5.7
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 93; verbal IQ, 115
31216378
31394104
177727
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11940.p1
8.3
F
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 109; verbal IQ, 121
31454162
31459854
5693
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11975.p1
6.4
M
Autism
NA
Full-scale IQ, 61; non-verbal IQ, 59; verbal IQ, 75
31454162
31459854
5693
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
31890473
31893895
3423
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
31216378
31232553
16176
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12472.p1
5.6
F
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ, 112
31454162
31459854
5693
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
31216378
31228696
12319
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
33097599
33100524
2926
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12676.p1
11.5
M
ASD
NA
Full-scale IQ, 110; non-verbal IQ, 107; verbal IQ, 114
31454162
31459854
5693
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12859.p1
4.3
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 56; verbal IQ, 40
31216378
31232553
16176
GRCh38
Duplication
No
simoncini_23_ASD/BPD/ID_discovery_cases-caseI-2
55 yrs.
M
Bipolar disorder and autistic features
Case diagnosed with bipolar disorder type II.
32124308
32474742
350435
GRCh38
Duplication
No
simoncini_23_ASD/BPD/ID_discovery_cases-caseII-1
33 yrs.
F
Bipolar disorder and autistic features
Case diagnosed with bipolar disorder type II.
32124308
32474742
350435
GRCh38
Duplication
No
simoncini_23_ASD/BPD/ID_discovery_cases-caseII-2
30 yrs.
M
ASD and intellectual disability
Case diagnosed with autism spectrum disorder (ASD).
Intellectual disability
32124308
32474742
350435
GRCh38
Duplication
No
simoncini_23_ASD/BPD/ID_discovery_cases-caseII-3
30 yrs.
M
ASD and intellectual disability
Case diagnosed with autism spectrum disorder (ASD).
Intellectual disability
32124308
32474742
350435
GRCh38
Duplication
No
simoncini_23_ASD/BPD/ID_discovery_cases-caseII-4
24 yrs.
F
ASD and bipolar disorder
Case diagnosed with autism spectrum disorder (ASD; AdAS, AQ, ADI-R, ADOS-2) and bipolar disorder (according to SCID-5) and also presented with specific language impairment, hearing loss, physical abnormality of the speech apparatus, and apraxia.
32124308
32474742
350435
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case584
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
30245152
30367091
121940
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
brandler_18_ASD_replication_controls-controlSSC10621
N/A
F
control
Control from SSC_phase2 cohort
32764042
32764146
105
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036014918_
N/A
N/A
Control
No previous psychiatric history
31216463
31475539
259077
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB566219_1007852909
N/A
N/A
Control
No previous psychiatric history
33097599
33177842
80244
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900077_900077
N/A
N/A
Control
No previous psychiatric history
31216378
31562274
345897
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900614_900614
N/A
N/A
Control
No previous psychiatric history
31595795
31633301
37507
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902427_902427
N/A
N/A
Control
No previous psychiatric history
31350259
31542972
192714
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1502
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
29445644
29522520
76877
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control14135.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
31257663
31477910
220248
GRCh38
Duplication
Yes
nord_11_ASD_discovery_controls-04C27014
Control
29501432
29513583
12152
Unknown
Deletion
poultney_13_ASD_discovery_controls-control05C39504A
N/A
M
Control
NIMH Control (NIMH ID 93942)
31257662
31465665
208004
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11045.s1
5.1
M
Control (matched sibling)
NA
NA
31454162
31459854
5693
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11114.s1
11.6
F
Control (matched sibling)
NA
NA
31454162
31459854
5693
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11911.s1
12
M
Control (matched sibling)
NA
NA
31216378
31257306
40929
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12083.s1
5.5
F
Control (matched sibling)
NA
NA
31216378
31228696
12319
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12187.s1
10.2
F
Control (matched sibling)
NA
NA
31454162
31459854
5693
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12407.s1
4.8
F
Control (matched sibling)
NA
NA
31216378
31255379
39002
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13144.s1
4.9
M
Control (matched sibling)
NA
NA
31217265
31232553
15289
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13226.s1
10.3
F
Control (matched sibling)
NA
NA
33135509
33141241
5733
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_16_ASD_discovery_cases_caseREACH000141
Solid phase hybridization (Illumina 2.5M)
De novo
Unknown
Possibly segregated
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HM13-IT1,RNU6-384P,ID1,MIR3193,COX4I2,ABALON,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13,HM13-AS1,TPX2,BCL2L1
brandler_18_ASD_discovery_cases-caseREACH000141
SNP VCF
De novo
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HM13-IT1,RNU6-384P,ID1,MIR3193,COX4I2,ABALON,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13,HM13-AS1,TPX2,BCL2L1
cabras_12_ASD/MR/EP_discovery_cases-case3
FISH
De novo
Unknown
Possibly segregated
BPIFB6,BPIFB3,BPIFB4
engchuan_15_ASD_discovery_cases-case14072_1250
Unknown
DEFB115,DKKL1P1,DEFB116,RPL31P3
engchuan_15_ASD_discovery_cases-case4043_1
Unknown
DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HM13-IT1,RNU6-384P,ID1,MIR3193,COX4I2,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13,HM13-AS1,BCL2L1
gazzellone_14_ASD_discovery_cases-case530-3
Unknown
Unknown
Unknown
CDK5RAP1,SNTA1
girirajan_12_ASD/DD/ID_discovery_cases-case21414
FISH, aCGH, or confirmation by inheritance
Maternal
Unknown
Unknown
DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HM13-IT1,RNU6-384P,ID1,MIR3193,COX4I2,ABALON,FOXS1,RNU1-94P,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13,HM13-AS1,TPX2,MYLK2,TTLL9,PDRG1,BCL2L1,DUSP15,XKR7
girirajan_13a_ASD_discovery_cases-AU1361302
Unknown
Multiplex
Unknown
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HM13-IT1,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13,HM13-AS1
iourov_12_ASD/ID/EP_discovery_cases-case3
FISH
Unknown
Unknown
Unknown
CFTRP3,LINC01597,MLLT10P1,RNA5SP528,DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HM13-IT1,RNU6-384P,ID1,MIR3193,COX4I2,ABALON,FOXS1,RNU1-94P,RNA5SP481,RNA5SP482,RSL24D1P6,TSPY26P,MIR1825,BAK1P1,BPIFB6,PUDPP3,SOCS2P1,RPL12P3,BPIFB9P,FAM242A,FRG1BP,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13,HM13-AS1,TPX2,MYLK2,TTLL9,PDRG1,CCM2L,HCK,PLAGL2,POFUT1,KIF3B,NOL4L-DT,COMMD7,MAPRE1,SUN5,BPIFB2,BPIFB3,BPIFB4,BPIFA2,BPIFA4P,BPIFA3,BPIFA1,BPIFB5P,CDK5RAP1,ANKRD20A21P,BCL2L1,DUSP15,XKR7,TM9SF4,ASXL1,C20orf203,DNMT3B,EFCAB8,BPIFB1,SNTA1,NOL4L
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004394
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HM13-IT1,RNU6-384P,ID1,MIR3193,COX4I2,ABALON,FOXS1,RNU1-94P,RNA5SP481,RNA5SP482,RSL24D1P6,TSPY26P,MIR1825,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13,HM13-AS1,TPX2,MYLK2,TTLL9,PDRG1,CCM2L,HCK,PLAGL2,POFUT1,KIF3B,BCL2L1,DUSP15,XKR7,TM9SF4
krumm_13_ASD_discovery_cases-case11872.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
PDRG1
krumm_15_ASD_discovery_cases-case11909.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,HAUS6P2
krumm_15_ASD_discovery_cases-case12597.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
BPIFB4
krumm_15_ASD_discovery_cases-case13676.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
DEFB115,DKKL1P1,DEFB116
mosrati_12_ASD/MR_discovery_cases-caseV5
Unknown
Multiplex
Unknown
C20orf203,COMMD7
nava_13_ASD_discovery_cases-Fam976Proband10747
Paternal
Simplex
Unknown
DEFB115,DKKL1P1,DEFB116,RPL31P3
poultney_13_ASD_discovery_cases-case05HI3933A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HM13-IT1,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13
rosenfeld_10_ASD_discovery_cases-case20963
FISH
Unknown
Unknown
Unknown
DEFB115,DEFB116,DEFB118,DEFB119
rosenfeld_10_ASD_discovery_cases-case8586
FISH
Unknown
Unknown
Unknown
DEFB123,DEFB124,REM1,HM13
sanders_11_ASD_discovery_cases-11045.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11301.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11609.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11845.p1
Maternal
Simplex (quad-proband matched)
Segregated
TTLL9
sanders_11_ASD_discovery_cases-11909.p1
Paternal
Simplex (quad-proband matched)
Segregated
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,HAUS6P2
sanders_11_ASD_discovery_cases-11940.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11975.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12220.p1
Paternal
Simplex (quad-proband matched)
Not segregated
TTLL9
sanders_11_ASD_discovery_cases-12405.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12472.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12505.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12597.p1
Maternal
Simplex (quad-proband matched)
Not segregated
BPIFB4
sanders_11_ASD_discovery_cases-12676.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12859.p1
Maternal
Simplex (quad-proband matched)
Not segregated
simoncini_23_ASD/BPD/ID_discovery_cases-caseI-2
Unknown
Multiplex
Segregated
TSPY26P,NOL4L,RSL24D1P6,ASXL1,MIR1825,PLAGL2,KIF3B,TM9SF4,POFUT1
simoncini_23_ASD/BPD/ID_discovery_cases-caseII-1
Paternal
Paternal
Multiplex
Segregated
TSPY26P,NOL4L,RSL24D1P6,ASXL1,MIR1825,PLAGL2,KIF3B,TM9SF4,POFUT1
simoncini_23_ASD/BPD/ID_discovery_cases-caseII-2
Paternal
Paternal
Multiplex
Segregated
TSPY26P,NOL4L,RSL24D1P6,ASXL1,MIR1825,PLAGL2,KIF3B,TM9SF4,POFUT1
simoncini_23_ASD/BPD/ID_discovery_cases-caseII-3
Paternal
Paternal
Multiplex
Segregated
TSPY26P,NOL4L,RSL24D1P6,ASXL1,MIR1825,PLAGL2,KIF3B,TM9SF4,POFUT1
simoncini_23_ASD/BPD/ID_discovery_cases-caseII-4
Paternal
Paternal
Multiplex
Segregated
TSPY26P,NOL4L,RSL24D1P6,ASXL1,MIR1825,PLAGL2,KIF3B,TM9SF4,POFUT1
yin_16_ASD_discovery_cases-case584
Unknown
Unknown
Unknown
LINC01597,FAM242A
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_controls-controlSSC10621
No validation step reported
Maternal
DNMT3B
engchuan_15_ASD_discovery_controls-control110036014918_
Unknown
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124
engchuan_15_ASD_discovery_controls-controlB566219_1007852909
Unknown
BPIFB4,BPIFA2
engchuan_15_ASD_discovery_controls-controlHABC_900077_900077
Unknown
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,MCTS2P,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124,HM13
engchuan_15_ASD_discovery_controls-controlHABC_900614_900614
Unknown
ID1,MIR3193
engchuan_15_ASD_discovery_controls-controlHABC_902427_902427
Unknown
RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,LINC00028,DEFB121,DEFB122,DEFB123,DEFB124,HM13
kanduri_15_ASD_discovery_controls-control_split1502
Unknown
Intergenic CNV: nearest genes, FRG1B(dist=89359)
krumm_15_ASD_discovery_controls-control14135.s1
Omni2.5-4v1
Maternal
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,REM1,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124
nord_11_ASD_discovery_controls-04C27014
DEFB123
poultney_13_ASD_discovery_controls-control05C39504A
Unknown
DEFB115,DKKL1P1,DEFB116,RPL31P3,RNA5SP480,DEFB117,DEFB118,DEFB119,HAUS6P2,DEFB121,DEFB122,DEFB123,DEFB124
sanders_11_ASD_discovery_controls-11045.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11114.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11911.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12083.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12187.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12407.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13144.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13226.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available