2q22.1CNV Type: Deletion-Duplication
Largest CNV size: 290498 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion-Duplication
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
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
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Deletion-Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
125558
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
1726
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
290497
2
0
2
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
298678
1
1
2
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
1326192
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
66221
1
1
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
900000
1
1
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
149000
1
0
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
21222
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
290498
2
0
2
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
299352
7
0
7
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
510931
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
109696
7
1
8
soueid_16_ASD_discovery_cases
Autistic children; 37/41 from 35 fully analyzed families (33 simplex, 2 multiplex)
41
All cases fulfilled DSM-V criteria for autism
Range, 3-18 yrs.
92.68% Male
257000
2
0
2
soueid_16_DD/ID_discovery_cases
Individuals referred to clinical neurogenetics service with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
35
Cases present with non-syndromic developmental delay and intellectual disabilities (DD/ID) or rare neurological syndromes
N/A
N/A
117000
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
20680
1
0
1
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
278332
0
1
1
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
125558
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
171073
10
2
12
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
55537
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
66221
1
0
1
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
135060
1
0
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.
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)
299352
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.
37722
3
1
4
soueid_16_ASD_discovery_controls
Control cohort of normal participants
37
Control
N/A
51.35% Male
0
0
0
0
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
20680
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
278332
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
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
soueid_16_ASD_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
soueid_16_DD/ID_discovery_cases
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
soueid_16_ASD_discovery_controls
Lebanon
Array SNP
Affymetrix 2.7M, Affymetrix CytoScan
Affymetrix ChAS
None
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
brandler_18_ASD_discovery_cases-caseSSC09624
N/A
M
ASD
Case from SSC_phase1 cohort
141188049
141313607
125559
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseAU3888302
N/A
M
ASD
Case from MSSNG cohort
140356654
140358379
1726
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5084_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
137171337
137461834
290498
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5264_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
139453865
139526339
72475
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU062003
Autism
139955786
140021119
65334
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU083604
Autism
139583024
139881701
298678
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002663
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
136937358
138263550
1326193
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004819
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
137958553
138500063
541511
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11025.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
137056419
137095121
38703
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13910.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
141188420
141254641
66222
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU1798301
N/A
F
ASD
136379430
137291430
912001
GRCh38
Deletion
No
leppa_16_ASD_discovery_cases-AU4122301
N/A
N/A
ASD
136141430
136648430
507001
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case114
6 yrs.
M
Language delay and language disorder
Birth history: born at 40 weeks gestation, no reported pregnancy anomalies. Developmental milestones: language delay. Language and communication evaluation: language disorder. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: neurological anomalies. Dysmorphic features: prominent forehead, overfolded helix of the ears, cowlick. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Normal (no intellectual disability or learning disorder)
141228986
141378037
149052
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-239-1
ASD
137760806
137782027
21222
Unknown
Deletion
No
pinto_10_ASD_discovery_cases-case5084_4
NA
M
ASD
NA
NA
137171337
137461834
290498
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5264_4
NA
F
ASD
NA
NA
139453865
139526339
72475
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100557L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
139932413
140000940
68528
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case47387
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
137640511
137939862
299352
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case71182
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
137759457
137783050
23594
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case74431
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
137759457
137783050
23594
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88032
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
137759457
137783050
23594
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case88813
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
140296202
140305364
9163
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case99006
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
137753151
137783050
29900
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_408
2 yrs.
F
Developmental delay
Additional clinical information N/A
Global developmental delay
140173842
140684772
510931
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_416
8 yrs.
F
Intellectual disability and ADHD
ADHD, bilateral epicanthus, joint hypermobility
Mild-moderate intellectual disability
137090850
137433941
343092
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
137285620
137309166
23547
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
137038147
137098350
60204
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11047.p1
10.4
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 74; verbal IQ, 36
139822104
139831499
9396
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11088.p1
5.7
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
141046033
141119632
73600
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11190.p1
5.1
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
139450933
139560630
109698
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
140666853
140672936
6084
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12827.p1
5.5
F
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
137285620
137309166
23547
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13323.p1
4.7
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
136883872
136899513
15642
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseBAK44
N/A
N/A
Autism
Case fulfilled DSM-V criteria for autism; no other information available
126132131
126389528
257398
GRCh38
Deletion
No
soueid_16_ASD_discovery_cases-caseCLIN18
N/A
M
Autism
Case fulfilled DSM-V criteria for autism; no other information available
141292540
141409259
116720
GRCh38
Deletion
No
soueid_16_DD/ID_discovery_cases-case6
N/A
N/A
Developmental delay/intellectual disability
141292540
141409259
116720
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case1-0381-003
N/A
M
ASD
N/A
N/A
137287522
137308201
20680
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case84
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
136562138
136840469
278332
GRCh38
Duplication
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-controlSSC09633
N/A
F
Control
Control from SSC_phase1 cohort
141188049
141313607
125559
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_controls-control110036022143_
N/A
N/A
Control
No previous psychiatric history
141921643
141984881
63239
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB240249_1007873508
N/A
N/A
Control
No previous psychiatric history
139261617
139301876
40260
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB245947_1007875345
N/A
N/A
Control
No previous psychiatric history
139955786
140021119
65334
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB326294_1007873306
N/A
N/A
Control
No previous psychiatric history
136615271
136740439
125169
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB522577_1007840898
N/A
N/A
Control
No previous psychiatric history
138751666
138922739
171074
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB884573_1007852580
N/A
N/A
Control
No previous psychiatric history
139955786
140021119
65334
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900242_900242
N/A
N/A
Control
No previous psychiatric history
139955786
140026813
71028
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900358_900358
N/A
N/A
Control
No previous psychiatric history
137018399
137147215
128817
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900406_900406
N/A
N/A
Control
No previous psychiatric history
137082406
137223477
141072
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901096_901096
N/A
N/A
Control
No previous psychiatric history
139770664
139810311
39648
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901213_901213
N/A
N/A
Control
No previous psychiatric history
139955786
140021119
65334
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902594_902594
N/A
N/A
Control
No previous psychiatric history
139955786
140021119
65334
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1764
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
140713355
140768891
55537
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control13910.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
141188420
141254641
66222
GRCh38
Deletion
Yes
leblond_19_ASD_discovery_controls-siblingPN400527
N/A
M
Control
Unaffected sibling of an ASD case
140238093
140373157
135065
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11011.s1
5.9
M
Control (matched sibling)
NA
NA
137226149
137226691
543
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11201.s1
10.6
M
Control (matched sibling)
NA
NA
141739276
141748161
8886
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12240.s1
6.7
F
Control (matched sibling)
NA
NA
137226149
137226691
543
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12523.s1
4
F
Control (matched sibling)
NA
NA
141752001
141789723
37723
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSSC09624
PCR or SNP data validation
Maternal
LRP1B
brandler_18_ASD_replication_cases-caseAU3888302
No validation step reported
Paternal
LRP1B
engchuan_15_ASD_discovery_cases-case5084_4
Unknown
THSD7B
engchuan_15_ASD_discovery_cases-case5264_4
Unknown
gai_11_ASD_replication_cases-AU062003
Inherited
RN7SL283P
gai_11_ASD_replication_cases-AU083604
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002663
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RNA5SP105,LINC01832,HNMT,THSD7B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004819
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01832,YWHAEP5,HNMT
krumm_15_ASD_discovery_cases-case11025.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
THSD7B
krumm_15_ASD_discovery_cases-case13910.p1
Omni2.5-4v1
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
LRP1B
leppa_16_ASD_discovery_cases-AU1798301
Paternal
Simplex
Segregated (CNV not present in unaffected sibling)
RN7SKP141,SMC4P1,THSD7B
leppa_16_ASD_discovery_cases-AU4122301
Paternal
Simplex
Unknown
UBBP1,RN7SKP141,SMC4P1,HNRNPKP2
maini_18_ASD/DD/ID_discovery_cases-case114
Unknown
Simplex
Unknown
LRP1B
nord_11_ASD_discovery_cases-239-1
Maternal
THSD7B
pinto_10_ASD_discovery_cases-case5084_4
Agilent1M
maternal
NA
NA
THSD7B
pinto_10_ASD_discovery_cases-case5264_4
Agilent1M
paternal
NA
NA
prasad_12_ASD_discovery_cases-case100557L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case47387
Unknown
Unknown
Unknown
THSD7B
prasad_12_ASD_discovery_cases-case71182
Unknown
Unknown
Unknown
THSD7B
prasad_12_ASD_discovery_cases-case74431
Unknown
Unknown
Unknown
THSD7B
prasad_12_ASD_discovery_cases-case88032
Unknown
Simplex
Unknown
THSD7B
prasad_12_ASD_discovery_cases-case88813
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case99006
Unknown
Unknown
Unknown
THSD7B
quintela_17_DD/ID_discovery_cases-caseID_408
Unknown
Unknown
MTCO1P44,MTND2P19,MTND1P27,MIR7157,LRP1B
quintela_17_DD/ID_discovery_cases-caseID_416
Unknown
Unknown
THSD7B
sanders_11_ASD_discovery_cases-11025.p1
Paternal
Simplex (trio)
NA
THSD7B
sanders_11_ASD_discovery_cases-11025.p1
Maternal
Simplex (trio)
NA
THSD7B
sanders_11_ASD_discovery_cases-11047.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11088.p1
Unknown
Simplex (quad-proband matched)
Segregated
LRP1B
sanders_11_ASD_discovery_cases-11190.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12691.p1
Both parents
Simplex (quad-proband matched)
Segregated
LRP1B
sanders_11_ASD_discovery_cases-12827.p1
Maternal
Simplex (trio)
NA
THSD7B
sanders_11_ASD_discovery_cases-13323.p1
Maternal
Simplex (trio)
NA
THSD7B
soueid_16_ASD_discovery_cases-caseBAK44
Maternal
N/A
soueid_16_ASD_discovery_cases-caseCLIN18
Paternal
Simplex
LRP1B
soueid_16_DD/ID_discovery_cases-case6
Unknown
Unknown
Unknown
LRP1B
walker_13_ASD_discovery_cases-case1-0381-003
Unknown
Simplex
Unknown
THSD7B
yin_16_ASD_discovery_cases-case84
Unknown
Unknown
Unknown
THSD7B
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC09633
PCR or SNP data validation
Maternal
LRP1B
engchuan_15_ASD_discovery_controls-control110036022143_
Unknown
LRP1B
engchuan_15_ASD_discovery_controls-controlB240249_1007873508
Unknown
engchuan_15_ASD_discovery_controls-controlB245947_1007875345
Unknown
RN7SL283P
engchuan_15_ASD_discovery_controls-controlB326294_1007873306
Unknown
engchuan_15_ASD_discovery_controls-controlB522577_1007840898
Unknown
RN7SKP286,YY1P2,AHCYP4,NXPH2
engchuan_15_ASD_discovery_controls-controlB884573_1007852580
Unknown
RN7SL283P
engchuan_15_ASD_discovery_controls-controlHABC_900242_900242
Unknown
RN7SL283P
engchuan_15_ASD_discovery_controls-controlHABC_900358_900358
Unknown
THSD7B
engchuan_15_ASD_discovery_controls-controlHABC_900406_900406
Unknown
THSD7B
engchuan_15_ASD_discovery_controls-controlHABC_901096_901096
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901213_901213
Unknown
RN7SL283P
engchuan_15_ASD_discovery_controls-controlHABC_902594_902594
Unknown
RN7SL283P
kanduri_15_ASD_discovery_controls-control_split1764
Unknown
Intergenic CNV: nearest genes, YY1P2(dist=1056611),LRP1B(dist=220105)
krumm_15_ASD_discovery_controls-control13910.s1
Omni2.5-4v1
Maternal
LRP1B
leblond_19_ASD_discovery_controls-siblingPN400527
Unknown
LRP1B
sanders_11_ASD_discovery_controls-11011.s1
Paternal
Simplex (quad)
NA
THSD7B
sanders_11_ASD_discovery_controls-11201.s1
Maternal
Simplex (quad)
NA
LRP1B
sanders_11_ASD_discovery_controls-12240.s1
Paternal
Simplex (quad)
NA
THSD7B
sanders_11_ASD_discovery_controls-12523.s1
Maternal
Simplex (quad)
NA
LRP1B
No Animal Model Data Available