22q13.31CNV Type: Deletion-Duplication
Largest CNV size: 157990 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Clinical and molecular characterization of an emerging chromosome 22q13.31 microdeletion syndrome.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
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
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
501532
2
2
4
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
407707
0
2
2
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
115058
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
1746486
0
5
5
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
20923
1
1
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
9635
1
1
2
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
22638
1
0
1
palumbo_17_DD/ID/ASD/EP_discovery_cases
Cases with 22q13.31 microdeletions (1 previously unreported case, 14 cases from the DECIPHER database)
15
13/15 cases with 22q13.31 microdeletions presented with developmental delay/intellectual disability (DD/ID); 3 cases presented with autism, 3 cases presented with seizures
N/A
60.0% Male
3150000
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)
10701
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
143369
2
1
3
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
1988637
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
157990
2
2
4
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
5800000
1
0
1
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
142929
1
0
1
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
1300000
1
1
2
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
328440
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
3956
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
597790
1
1
2
girirajan_13a_ASD_discovery_controls1
NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
580
Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
NA
NA
0
0
0
0
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
45283
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
76921
2
2
4
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
83195
1
2
3
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
58074
1
1
2
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)
143369
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.
618876
2
2
4
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
N/A
N/A
N/A
N/A
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
328440
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
palumbo_17_DD/ID/ASD/EP_discovery_cases
N/A
Array SNP, N/A
Affymetrix CytoScan HD, N/A
HMM
Affymetrix ChAS v3.1
Array SNP
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
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
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls1
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_cases-case13077_913
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47665624
47718892
53269
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4020_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
43925269
43982119
56851
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5378_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
47075714
47108660
32947
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8533_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
46773778
47275457
501680
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case668-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
46550905
46958613
407709
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case685-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
47505867
47527060
21194
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13698.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
48190409
48305466
115058
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000771
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46183346
46791748
608403
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000849
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
47069266
47636658
567393
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001627
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46395546
47339207
943662
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001844
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45954698
47245325
1290628
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005336
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46281772
48028340
1746569
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case12011.p1
N/A
M
ASD
ASD proband from SSC quad family 12011. SRS score of 82.
Full-scale IQ (FSIQ) score of 82.
44487623
44497556
9934
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12409.p1
N/A
M
ASD
ASD proband from SSC quad family 12409. SRS score of 77.
Full-scale IQ (FSIQ) score of 107.
46891265
46912188
20924
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case11346.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
45413458
45414403
946
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12011.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
44487923
44497558
9636
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-12656.p1
NA
M
ASD
NA
NA
46887978
46910615
22638
GRCh38
Deletion
No
palumbo_17_DD/ID/ASD/EP_discovery_cases-case1
18 yrs.
M
Intellectual disability and speech delay
Birth/neonatal history: prenatal ultrasound detected underdeveloped right kidney and choroid plexus cysts; normal 46,XY karyotype on chromosome analysis on amniotic cells; born at term by spontaneous vaginal delivery without complications; birth weight 4100 g (> 97th %ile), length 533 cm (> 97th %ile), and OFC 37 cm (> 97th %ile); postnatal abdominal ultrasound and renal scintigraphy confirmed reduced size of right kidney and compensatory enlargement of the left kidney (nephrology follow-up documented normal renal function). Developmental milestones: delayed psychomotor development; patient able to walk unsupported and speak first words at 3 years of age. Language and communication evaluation: speech delay. Motor and musculoskeletal evaluation: hypotonia; squared hands, distal placement of thumb, prominent digit pads; scoliosis, bilateral pes cavus, and hyperdontia (supernumerary maxillary premolars) noted at 18 years. Epilepsy/seizures: febrile seizures in childhood. EEG: abnormal EEG (treated with valproic acid until age of 7 years). Brain imaging: cerebral ultrasound performed during fourth month of life revealed dilatation of lateral and third ventricles, computed axial tomography showed slight atrophy of the brain; brain MRI at age of 7 years showed small T1-hyperintense spots of peritrigonal zone, cyst of the septum pellucidum, mild ventricular dilatation, and thinning of splenium of corpus callosum. Cardiac evaluation: bicuspid aortic valve. Dysmorphic features: broad nasal tip, widow's peak, abnormal position of hair whorl. Growth parameters: macrocephaly; weight of 29 kg (25th %ile), height of 138 cm (50th %ile), and OFC of 58 cm (> 97th %ile) at 10 years of age; weight of 60 kg (10th-25th %ile), height of 171 cm (10th-25th %ile), and OFC of 62 cm (> 97th %ile) at 18 years. Family history: second of three sons of non-consanguineous parents, family history was unremarkable for genetic conditions.
Intellectual disability
44750910
47904511
3153602
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case01HI2299A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU076304; NDAR ID NDAR_INVKK797NPG)
44157980
44168680
10701
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case53696
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
45515265
45658633
143369
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case55262-L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
46438172
46492384
54213
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case80022
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
45847598
45882173
34576
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_301
13 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
44075075
46063711
1988637
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12011.p1
7.9
M
Autism
NA
Full-scale IQ, 82; non-verbal IQ, 86; verbal IQ, 83
44489710
44495993
6284
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12058.p1
9.3
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 122; verbal IQ, 139
48137921
48198497
60577
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12137.p1
5.9
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
44905577
44909256
3680
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12409.p1
10.8
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
46889500
47047490
157991
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case54
M
DD/ID
Rounded nasal tip, dental anomalies, arched palate, micrognathia, low set ears, hypotonia, cryptorchid testes, joint laxity, dysplastic pulmonary artery valve
44938676
50739836
5801161
GRCh38
Deletion
No
woodbury-smith_14_ASD_discovery_cases-case23
N/A
N/A
ASD
Family history: CNV also identified in two relatives with unknown affection status
44026304
44169232
142929
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case38
13 yrs.
M
Phelan-McDermid syndrome
Severe ASD, absent speech, seizures, global developmental delay
45233185
46560559
1327375
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case38
13 yrs.
M
Phelan-McDermid syndrome
Severe ASD, absent speech, seizures, global developmental delay
44348689
45233185
884497
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case630
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
43838974
44167413
328440
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case631
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
45706763
45875715
168953
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_discovery_controls-controlSSC03731
N/A
F
Control
Control from SSC cohort
44456302
44460258
3957
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-controlB203042_1007874364
N/A
N/A
Control
No previous psychiatric history
43927042
43982119
55078
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
N/A
N/A
Control
No previous psychiatric history
46505862
47103653
597792
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1307
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
44322922
44368204
45283
Unknown
Duplication
No
krumm_13_ASD_discovery_controls-control12011.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12011. SRS score of 43.
44487623
44497556
9934
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control12375.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12375. SRS score of 46.
43926934
43981461
54528
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12409.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12409. SRS score of 44.
46891265
46912188
20924
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_controls-control13606.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13606. SRS score of 49.
44725243
44802164
76922
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control12011.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44487923
44497558
9636
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12375.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
43926934
43981461
54528
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13606.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
44725243
44808438
83196
GRCh38
Deletion
Yes
levy_11_ASD_discovery_controls-12375.s1
NA
F
Control
NA
NA
43924354
43982427
58074
GRCh38
Duplication
No
levy_11_ASD_discovery_controls-12656.s1
NA
M
Control
NA
NA
46887978
46910615
22638
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
43925269
43982119
56851
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12409.s1
9
F
Control (matched sibling)
NA
NA
46889500
47047490
157991
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
46889500
46910711
21212
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
47207419
47826296
618878
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case13077_913
Unknown
engchuan_15_ASD_discovery_cases-case4020_1
Unknown
PNPLA3,SAMM50
engchuan_15_ASD_discovery_cases-case5378_3
Unknown
TBC1D22A
engchuan_15_ASD_discovery_cases-case8533_201
Unknown
TBC1D22A-AS1,TBC1D22A
gazzellone_14_ASD_discovery_cases-case668-3
Unknown
Unknown
Unknown
TBC1D22A-AS1,CERK,GRAMD4,TBC1D22A
gazzellone_14_ASD_discovery_cases-case685-3
Unknown
Unknown
Unknown
girirajan_13a_ASD_discovery_cases-13698.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
MIR3201
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000771
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
CDPF1,PKDREJ,GTSE1-DT,PPARA,GTSE1,TRMU,CERK,TTC38,CELSR1,GRAMD4,TBC1D22A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000849
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01644,LINC00898,TBC1D22A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001627
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
TBC1D22A-AS1,CERK,CELSR1,GRAMD4,TBC1D22A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001844
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,TTC38,CELSR1,GRAMD4,TBC1D22A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005336
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GTSE1-DT,TBC1D22A-AS1,GTSE1,TRMU,CERK,LINC01644,LINC00898,TTC38,CELSR1,GRAMD4,TBC1D22A
krumm_13_ASD_discovery_cases-case12011.p1
Paternal
Simplex
Not segregated
RTL6
krumm_13_ASD_discovery_cases-case12409.p1
Maternal
Simplex
Not segregated
TBC1D22A
krumm_15_ASD_discovery_cases-case11346.p1
Illumina 1M
Paternal
Simplex
Segregated
RIBC2,SMC1B
krumm_15_ASD_discovery_cases-case12011.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RTL6
levy_11_ASD_discovery_cases-12656.p1
Maternal
Simplex
Not segregated
TBC1D22A
palumbo_17_DD/ID/ASD/EP_discovery_cases-case1
Array SNP (independent array)
De novo
Simplex
Likely segregated
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A
poultney_13_ASD_discovery_cases-case01HI2299A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PARVB
prasad_12_ASD_discovery_cases-case53696
Unknown
Unknown
Unknown
TBC1D22A
prasad_12_ASD_discovery_cases-case55262-L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case80022
Unknown
Unknown
Unknown
TBC1D22A
quintela_17_DD/ID_discovery_cases-caseID_301
Unknown
Unknown
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,PARVG,LINC00229,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,SHISAL1,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930,SMC1B,ATXN10,PARVB
sanders_11_ASD_discovery_cases-12011.p1
Paternal
Simplex (quad-proband matched)
Segregated
RTL6
sanders_11_ASD_discovery_cases-12058.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12137.p1
Maternal
Simplex (trio)
NA
PHF21B
sanders_11_ASD_discovery_cases-12409.p1
Maternal
Simplex (quad-proband matched)
Not segregated
TBC1D22A-AS1,TBC1D22A
tzetis_12_DD/ID_discovery_cases-case54
Unknown
Unknown
MIR1249,LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,TBC1D22A-AS1,MIR3201,MIR4535,RPL35P8,MIR3667,RN7SKP252,PIM3,MIR6821,PANX2,TRABD,ADM2,MIOX,LMF2,SCO2,ODF3B,KLHDC7B,CHKB-DT,RNU6-409P,NUP50-DT,NUP50,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,CERK,LINC01644,LINC00898,RPL5P35,ZBED4,ALG12,CRELD2,IL17REL,TTLL8,MOV10L1,SELENOO,TUBGCP6,HDAC10,MAPK12,MAPK11,PLXNB2,DENND6B,PPP6R2,NCAPH2,TYMP,SYCE3,CPT1B,CHKB-CPT1B,MAPK8IP2,ARSA,ACR,PHF21B,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1,GRAMD4,TBC1D22A,FAM19A5,LINC01310,C22orf34,BRD1,MLC1,SBF1,CHKB,SHANK3
woodbury-smith_14_ASD_discovery_cases-case23
Unknown
Extended multiplex
Unknown
PARVB
xu_16_ASD/DD/ID_discovery_cases-case38
Unknown
LINC01589,RNU6-1161P,MIR4762,LINC00899,PRR34,MIR3619,MIRLET7A3,MIR4763,MIRLET7B,CDPF1,PKDREJ,GTSE1-DT,UPK3A,FAM118A,RIBC2,FBLN1,WNT7B,PRR34-AS1,MIRLET7BHG,PPARA,GTSE1,TRMU,KIAA0930,SMC1B,ATXN10,TTC38,CELSR1
xu_16_ASD/DD/ID_discovery_cases-case38
Unknown
LINC01656,MRPS18CP6,RTL6,KRT18P23,LINC00207,ANP32BP2,MIR1249,LINC00229,NUP50-DT,NUP50,PRR5,PRR5-ARHGAP8,ARHGAP8,PHF21B,KIAA0930
yin_16_ASD_discovery_cases-case630
Unknown
Unknown
Unknown
PNPLA5,SULT4A1,PNPLA3,SAMM50,PARVB
yin_16_ASD_discovery_cases-case631
Unknown
Unknown
Unknown
MIR4762,ATXN10
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC03731
SNP VCF
De novo
engchuan_15_ASD_discovery_controls-controlB203042_1007874364
Unknown
PNPLA3,SAMM50
engchuan_15_ASD_discovery_controls-controlHABC_900013_900013
Unknown
TBC1D22A-AS1,CERK,CELSR1,GRAMD4,TBC1D22A
kanduri_15_ASD_discovery_controls-control_split1307
Unknown
PNPLA3,SAMM50
krumm_13_ASD_discovery_controls-control12011.s1
aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
RTL6
krumm_13_ASD_discovery_controls-control12375.s1
Paternal
Simplex
PNPLA3,SAMM50
krumm_13_ASD_discovery_controls-control12409.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
TBC1D22A
krumm_13_ASD_discovery_controls-control13606.s1
Paternal
Simplex
PRR5,PRR5-ARHGAP8,ARHGAP8
krumm_15_ASD_discovery_controls-control12011.s1
Illumina 1MDuo
Paternal
RTL6
krumm_15_ASD_discovery_controls-control12375.s1
Illumina 1MDuo
Paternal
PNPLA3,SAMM50
krumm_15_ASD_discovery_controls-control13606.s1
1M-Duov3
Paternal
PRR5,PRR5-ARHGAP8,ARHGAP8
levy_11_ASD_discovery_controls-12375.s1
Paternal
Simplex
NA
PNPLA3,SAMM50
levy_11_ASD_discovery_controls-12656.s1
Maternal
Simplex
NA
TBC1D22A
sanders_11_ASD_discovery_controls-12375.s1
Paternal
Simplex (quad)
NA
PNPLA3,SAMM50
sanders_11_ASD_discovery_controls-12409.s1
Maternal
Simplex (quad)
NA
TBC1D22A-AS1,TBC1D22A
sanders_11_ASD_discovery_controls-12656.s1
Maternal
Simplex (quad)
NA
TBC1D22A
sanders_11_ASD_discovery_controls-13001.s1
Maternal
Simplex (quad)
NA
LINC01644,LINC00898
No Animal Model Data Available