16q23.2CNV Type: Deletion-Duplication
Largest CNV size: 136784 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
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...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Deletion
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes 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-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
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
103815
2
0
2
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
10293
3
0
3
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
51653
3
0
3
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
719793
2
2
4
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
2426
1
0
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
81755
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
176032
7
5
12
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
130000
0
1
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
12045
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
78210
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)
119842
0
2
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
146227
4
3
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
258404
1
0
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
136784
15
2
17
van_der_aa_12_ASD_discovery_cases
First child of healthy non-consanguineous parents with unremarkable family history presenting with developmental delay and autism spectrum disorder
1
Diagnosis of ASD confirmed by ADOS Module 1
5 yrs.
Female
283000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
313758
6
0
6
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
2426
2
0
2
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
124739
3
2
5
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.
13595
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)
7041
1
0
1
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)
146227
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.
121955
10
0
10
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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)
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
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
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
van_der_aa_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina HumanCNV370-Quad Beadchip
CNV-WebStore
MLPA
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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_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
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
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-case4242_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80415343
80519158
103816
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5514_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80352418
80430627
78210
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU0919302
Autism
78944520
78954812
10293
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1416301
Autism
78944520
78954812
10293
Unknown
Deletion
No
gai_11_ASD_discovery_cases-AU1416302
Autism
78944520
78954812
10293
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU066505
Autism
79013904
79065556
51653
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU069603
Autism
79047632
79060922
13291
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU069604
Autism
79047632
79060922
13291
Unknown
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001854
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
81083563
81219270
135708
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002627
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
79627684
79891538
263855
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004128
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80975821
81354743
378923
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004405
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
80946459
81666544
720086
GRCh38
Duplication
Yes
kanduri_15_ASD_discovery_cases-case1493
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
80498094
80500519
2426
Unknown
Deletion
No
krumm_13_ASD_discovery_cases-case12373.p1
N/A
M
ASD
ASD proband from SSC quad family 12373. SRS score of 90.
Full-scale IQ (FSIQ) score N/A.
81280856
81362611
81756
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11110.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
81137436
81141525
4090
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11184.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
81147297
81154338
7042
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11512.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
81137436
81141525
4090
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12015.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
81167918
81290577
122660
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12061.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
81127760
81245603
117844
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12373.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
81285539
81362611
77073
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12940.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
80541072
80550558
9487
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13027.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
81147297
81154139
6843
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13119.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
81167918
81290577
122660
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13865.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
81167918
81290577
122660
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13993.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
81032569
81208601
176033
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14483.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
81216244
81238972
22729
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam1233Proband10931
N/A
M
ASD
Additional clinical profile info N/A
ID
81177309
81307758
130450
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case11184.p1
NA
M
ASD/Autism
Case also identified with de novo HDGFRP2 missense mutation. No additional clinical info available.
High IQ. Non verbal IQ, 94
81145044
81157089
12046
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5514_3
NA
M
ASD
NA
NA
80352418
80430627
78210
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case03HI2537A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU0934302; NDAR ID NDAR_INVMY062BPQ)
81041354
81044972
3619
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3983A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1019302; NDAR ID NDAR_INVBD378BUJ)
81170738
81290579
119842
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case101464
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
78942759
79019831
77073
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case121815
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
78846960
78872322
25363
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case122348
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
79757950
79904176
146227
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case146454L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
79453952
79505889
51938
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50089
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
79684348
79713678
29331
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case57414
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
80005187
80024811
19625
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case93033
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
79513880
79558769
44890
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_400
14 yrs.
M
Intellectual disability
Additional clinical information N/A
Moderate intellectual disability
80468288
80726691
258404
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11087.p1
6.1
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
80456234
80469608
13375
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11184.p1
9.5
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 94; verbal IQ, 86
81147575
81154247
6673
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11193.p1
7.5
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 138; verbal IQ, 91
80464197
80473296
9100
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11276.p1
7.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 81; verbal IQ 59
81120843
81139856
19014
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11359.p1
5.5
M
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 96; verbal IQ, 81
80910298
80917409
7112
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11512.p1
5.7
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
81138030
81139856
1827
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11863.p1
5.3
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 123; verbal IQ, 114
81089256
81094625
5370
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12015.p1
7.2
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 92; verbal IQ, 60
81165967
81302751
136785
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12061.p1
7
F
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
81125832
81257000
131169
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12330.p1
4.5
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
80870512
80879772
9261
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12373.p1
9.8
M
Autism
NA
Full-scale IQ, 0; non-verbal IQ, 77; verbal IQ, 40
81273979
81359085
85107
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12375.p1
15.9
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
81093866
81094625
760
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12588.p1
9.4
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
80834007
80953433
119427
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12681.p1
6.5
F
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 65; verbal IQ, 69
80310651
80353774
43124
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12736.p1
4.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 111; verbal IQ, 86
80861111
80914172
53062
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12817.p1
9.4
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 34; verbal IQ, 37
81093866
81094625
760
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13065.p1
5.6
M
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
80870512
80879772
9261
GRCh38
Deletion
No
van_der_aa_12_ASD_discovery_cases-case1
5 yrs.
F
ASD
Diagnosis of ASD confirmed by ADOS Module 1. Birth/neonatal history: born by C-section for breech position after uneventful pregnancy at 37 weeks; birth weight 20th %ile, birth length 15th-20th %ile, birth OFC 75th %ile; no neonatal problems reported. Developmental milestones: investigated at 17 months due to global developmental delay (no words, had not started babbling); motor development (as assessed by BSID-II-NL) showed index of <55 (developmental age of 8 months); verbal and nonverbal communication (as evaluated by nonspeech test, Dutch version/NNST and communicative development inventories list, Dutch version/N-CDI) showed delays in receptive and expressive language and preverbal skills at 6-month-old level and N-CDI scores for communication at ~9 months for expression and ~12 months for comprehension; sat unsupported at 10 months, started crawling at 22 onths, walked unassisted at 26 months; no hsitory of regression in any aspect of functioning. Language and communication evaluation: Reynell Developmental Language Scales testing at 5 years of age showed global language comprehension level of 2 years 6 months, with similar scores in comprehension and expression of language; evaluation at 5 years of age with Peabody Picture Vocabulary Test revealed score of 2 years 5 months for receptive language; frequent use of stereotypical and repetitive sentence utterances. Motor and musculoskeletal evaluation: positive evolution of both gross and fine motor development by 5 years of age; Peabody Developmental Motor Scales (2nd edition) testing at 5 years showed balance at 4 years 3 months, movement coordination at 3 years, ball skills at 3 years 5 months, grasping and manipulating at 4 years 7 months, visuomotor integration at 3 years. Behavioral/psychiatric evaluation: poor contact skills, motor stereotpyes, and stereotypical fascination and repetition in play noted at 17 months; stereotypical behavior with hand waving and clapping and poor eye contact observed at 3 years; very short attention span noted at 5 years. Epilepsy/seizures: history of febrile seizures; started on prophylactic anticonsulvant therapy with valproate by 3 years of age. Dysmorphic features: none. Family history: healthy, non-consanguineous parents with unremarkable family history.
Evaluation at 5 years using Bayley Scales of Infant and Toddler Development (BSID-II-NL): global developmental age of 2 yrs 9 months.
81333395
81645395
312001
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
N/A
N/A
Control
No previous psychiatric history
80172029
80213535
41507
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB986243_1007853916
N/A
N/A
Control
No previous psychiatric history
80654260
80968018
313759
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900452_900452
N/A
N/A
Control
No previous psychiatric history
80834007
80955962
121956
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900606_900606
N/A
N/A
Control
No previous psychiatric history
80921496
80955962
34467
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900887_900887
N/A
N/A
Control
No previous psychiatric history
80870512
80910771
40260
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901247_901247
N/A
N/A
Control
No previous psychiatric history
81123388
81159767
36380
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split130
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
80498094
80500519
2426
Unknown
Deletion
No
kanduri_15_ASD_discovery_controls-control_split353
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
80498094
80500519
2426
Unknown
Deletion
No
krumm_15_ASD_discovery_controls-control13001.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
81259675
81268131
8457
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13962.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
81137436
81141525
4090
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control14202.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
81165838
81290577
124740
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14212.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
81167918
81290577
122660
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14483.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
81215008
81245603
30596
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27173
Control
79497301
79510895
13595
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C36739A
N/A
F
Control
NIMH Control (NIMH ID 67400)
81147298
81154338
7041
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
81228911
81244660
15750
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11184.s1
8.1
F
Control (matched sibling)
NA
NA
81147575
81155905
8331
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11359.s1
11.6
F
Control (matched sibling)
NA
NA
80910298
80917409
7112
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12275.s1
8.4
M
Control (matched sibling)
NA
NA
81559329
81575693
16365
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12341.s1
11.3
F
Control (matched sibling)
NA
NA
80352418
80384205
31788
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12588.s1
5.4
M
Control (matched sibling)
NA
NA
80834007
80955962
121956
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12736.s1
7.1
F
Control (matched sibling)
NA
NA
80861111
80914172
53062
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13001.s1
7.4
M
Control (matched sibling)
NA
NA
81225291
81277342
52052
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
81093866
81094625
760
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
80950570
80953433
2864
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case4242_1
Unknown
engchuan_15_ASD_discovery_cases-case5514_3
Unknown
gai_11_ASD_discovery_cases-AU0919302
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1416301
Inherited
0 genes
gai_11_ASD_discovery_cases-AU1416302
Inherited
0 genes
gai_11_ASD_replication_cases-AU066505
Inherited
0 genes
gai_11_ASD_replication_cases-AU069603
Inherited
0 genes
gai_11_ASD_replication_cases-AU069604
Inherited
0 genes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001854
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1191P,GCSH,PKD1L2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002627
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MAFTRR,LINC01228,LINC01229
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004128
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ATMIN,RNU6-1191P,CENPN,C16orf46,GCSH,GAN,CMC2,PKD1L2,BCO1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004405
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
ATMIN,RNU6-1191P,MIR4720,PPIAP51,MIR7854,MIR6504,CENPN,C16orf46,GCSH,GAN,CMC2,PKD1L2,BCO1,CMIP
kanduri_15_ASD_discovery_cases-case1493
Paternal
Unknown
Unknown
Intergenic CNV: nearest genes, LOC101928248(dist=662854),DYNLRB2(dist=74335)
krumm_13_ASD_discovery_cases-case12373.p1
Paternal
Simplex
Segregated
GAN,BCO1
krumm_15_ASD_discovery_cases-case11110.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PKD1L2
krumm_15_ASD_discovery_cases-case11184.p1
Illumina 1M
Paternal
Simplex
Segregated
PKD1L2
krumm_15_ASD_discovery_cases-case11512.p1
Illumina 1M
Maternal
Simplex
Segregated
PKD1L2
krumm_15_ASD_discovery_cases-case12015.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
PKD1L2,BCO1
krumm_15_ASD_discovery_cases-case12061.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
PKD1L2,BCO1
krumm_15_ASD_discovery_cases-case12373.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
GAN,BCO1
krumm_15_ASD_discovery_cases-case12940.p1
1M-Duov3
Paternal
Simplex
Segregated
DYNLRB2
krumm_15_ASD_discovery_cases-case13027.p1
1M-Duov3
Paternal
Simplex
Segregated
PKD1L2
krumm_15_ASD_discovery_cases-case13119.p1
1M-Duov3
Maternal
Simplex
Segregated
PKD1L2,BCO1
krumm_15_ASD_discovery_cases-case13865.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
PKD1L2,BCO1
krumm_15_ASD_discovery_cases-case13993.p1
Omni2.5-4v1
De novo
Simplex
Segregated
ATMIN,RNU6-1191P,CENPN,C16orf46,GCSH,PKD1L2
krumm_15_ASD_discovery_cases-case14483.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
PKD1L2,BCO1
nava_13_ASD_discovery_cases-Fam1233Proband10931
Unknown
Simplex
Unknown
PKD1L2,BCO1
o'roak_12_ASD_discovery_cases-case11184.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
PKD1L2
pinto_10_ASD_discovery_cases-case5514_3
Agilent1M
maternal
NA
NA
poultney_13_ASD_discovery_cases-case03HI2537A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ATMIN
poultney_13_ASD_discovery_cases-case05HI3983A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
PKD1L2,BCO1
prasad_12_ASD_discovery_cases-case101464
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case121815
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case122348
Unknown
Unknown
Unknown
PKD1L2,BCMO1
prasad_12_ASD_discovery_cases-case146454L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case50089
Unknown
Unknown
Unknown
PKD1L2,LOC100329108,GCSH
prasad_12_ASD_discovery_cases-case57414
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case93033
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_400
Unknown
Unknown
LINC01227,DYNLRB2,CDYL2
sanders_11_ASD_discovery_cases-11087.p1
Both parents
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11184.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PKD1L2
sanders_11_ASD_discovery_cases-11193.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11276.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
PKD1L2
sanders_11_ASD_discovery_cases-11359.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11512.p1
Maternal
Simplex (quad-proband matched)
Not segregated
PKD1L2
sanders_11_ASD_discovery_cases-11863.p1
Unknown
Simplex (quad-proband matched)
Segregated
GCSH
sanders_11_ASD_discovery_cases-12015.p1
Maternal
Simplex (quad-proband matched)
Segregated
PKD1L2,BCO1
sanders_11_ASD_discovery_cases-12061.p1
Paternal
Simplex (quad-proband matched)
Not segregated
PKD1L2,BCO1
sanders_11_ASD_discovery_cases-12330.p1
Paternal
Simplex (trio)
NA
ARLNC1
sanders_11_ASD_discovery_cases-12373.p1
Paternal
Simplex (quad-proband matched)
Segregated
GAN,BCO1
sanders_11_ASD_discovery_cases-12375.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GCSH
sanders_11_ASD_discovery_cases-12588.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ARLNC1
sanders_11_ASD_discovery_cases-12681.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12736.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ARLNC1
sanders_11_ASD_discovery_cases-12817.p1
Unknown
Simplex (quad-proband matched)
Not segregated
GCSH
sanders_11_ASD_discovery_cases-13065.p1
Paternal
Simplex (trio)
NA
ARLNC1
van_der_aa_12_ASD_discovery_cases-case1
MLPA
De novo
Simplex
Segregated
MIR4720,PPIAP51,MIR7854,MIR6504,GAN,CMIP
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB556806_1007854703
Unknown
engchuan_15_ASD_discovery_controls-controlB986243_1007853916
Unknown
ARLNC1,CMC2,CDYL2
engchuan_15_ASD_discovery_controls-controlHABC_900452_900452
Unknown
ARLNC1
engchuan_15_ASD_discovery_controls-controlHABC_900606_900606
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900887_900887
Unknown
ARLNC1
engchuan_15_ASD_discovery_controls-controlHABC_901247_901247
Unknown
PKD1L2
kanduri_15_ASD_discovery_controls-control_split130
Unknown
Intergenic CNV: nearest genes, LOC101928248(dist=662854),DYNLRB2(dist=74335)
kanduri_15_ASD_discovery_controls-control_split353
Unknown
Intergenic CNV: nearest genes, LOC101928248(dist=662854),DYNLRB2(dist=74335)
krumm_15_ASD_discovery_controls-control13001.s1
Illumina 1MDuo
Maternal
BCO1
krumm_15_ASD_discovery_controls-control13962.s1
Omni2.5-4v1
Paternal
PKD1L2
krumm_15_ASD_discovery_controls-control14202.s1
Omni2.5-4v1
Paternal
PKD1L2,BCO1
krumm_15_ASD_discovery_controls-control14212.s1
Omni2.5-4v1
Paternal
PKD1L2,BCO1
krumm_15_ASD_discovery_controls-control14483.s1
Omni2.5-4v1
Paternal
PKD1L2,BCO1
nord_11_ASD_discovery_controls-04C27173
0 genes
poultney_13_ASD_discovery_controls-control04C36739A
Unknown
PKD1L2
sanders_11_ASD_discovery_controls-11101.s1
Maternal
Simplex (quad)
NA
BCO1
sanders_11_ASD_discovery_controls-11184.s1
Paternal
Simplex (quad)
NA
PKD1L2
sanders_11_ASD_discovery_controls-11359.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12275.s1
Paternal
Simplex (quad)
NA
CMIP
sanders_11_ASD_discovery_controls-12341.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12588.s1
Maternal
Simplex (quad)
NA
ARLNC1
sanders_11_ASD_discovery_controls-12736.s1
Maternal
Simplex (quad)
NA
ARLNC1
sanders_11_ASD_discovery_controls-13001.s1
Maternal
Simplex (quad)
NA
BCO1
sanders_11_ASD_discovery_controls-13169.s1
Unknown
Simplex (quad)
NA
GCSH
sanders_11_ASD_discovery_controls-13233.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available