3q23CNV Type: Deletion-Duplication
Largest CNV size: 352000 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
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.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
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.
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.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
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
alayadhi_16_ASD_discovery_cases
ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
22
All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
N/A
100% Male
7276
4
0
4
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
195694
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
727911
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
45773
0
2
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
1438243
1
1
2
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
199745
1
3
4
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
199745
0
9
9
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
34237
0
1
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
171000
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
261400
0
1
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
170532
0
2
2
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)
271415
0
1
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
56418
3
1
4
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
645822
0
1
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
172496
0
1
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
249312
0
3
3
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
264083
2
5
7
shen_10_ASD_discovery_cases
Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
848
ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
352000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
727911
NA
NA
NA
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
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
199745
1
5
6
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
199745
0
7
7
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
34237
0
1
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)
199749
0
5
5
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)
56418
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.
264083
4
8
12
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
alayadhi_16_ASD_discovery_cases
Saudi
Solid phase hybridization
Illumina HumanOmni 2.5M
CNVPartition v.3.2.0, Penn CNV
Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
qPCR
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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
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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
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
shen_10_ASD_discovery_cases
aCGH, array SNP
Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
BRLMM, CNAT4, Partek Genomic Suite
CGH Analytics, DNA Analytics software
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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
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
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
alayadhi_16_ASD_discovery_cases-caseAUT5-1
N/A
M
Autism
CARS score of 36.0; Social Responsiveness Scale (SRS) score of 79; Sensory profile score of 137.
140572131
140604862
32732
GRCh38
Deletion
Yes
alayadhi_16_ASD_discovery_cases-caseAUT5-2
N/A
M
Autism
CARS score of 33.0; Social Responsiveness Scale (SRS) score of 80; Sensory profile score of 133.
140572131
140604862
32732
GRCh38
Deletion
Yes
alayadhi_16_ASD_discovery_cases-caseAUT9-1
N/A
M
Autism
CARS score of 28.5; Social Responsiveness Scale (SRS) score of 72; Sensory profile score N/A.
140572131
140604862
32732
GRCh38
Deletion
Yes
alayadhi_16_ASD_discovery_cases-caseAUT9-2
N/A
M
Autism
CARS score of 35.5; Social Responsiveness Scale (SRS) score of 73; Sensory profile score of 185.
140572131
140604862
32732
GRCh38
Deletion
Yes
gai_11_ASD_replication_cases-AU062703
Autism
141467560
141663253
195694
Unknown
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case35334
11 mos.
M
MCA
No developmental delay as of yet. Normal tone. Moderate mixed hearing loss. Dysmorphic features: retrognathia, small cupped malformed right ear. Congenital anomalies: cleft palate, left clubfoot, right multicystic dysplastic kidney. Other features: exotropia. Growth parameters: weight <3rd %ile, height 3rd %ile, OFC -1.6 SD. Family history: father has cleft palate and learning disability; mother has renal problems.
NA
139341999
140069910
727912
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-11948.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
143043477
143089250
45774
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-12831.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
143043477
143089250
45774
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002709
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
139525129
140095577
570449
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005256
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
140069651
141507894
1438244
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11108.p1
N/A
M
ASD
ASD proband from SSC quad family 11108. SRS score of 75.
Full-scale IQ (FSIQ) score of 104.
142165621
142357119
191499
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case12631.p1
N/A
M
ASD
ASD proband from SSC quad family 12631. SRS score of 78.
Full-scale IQ (FSIQ) score of 80.
142170324
142357119
186796
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13176.p1
N/A
F
ASD
ASD proband from SSC quad family 13176. SRS score of 90.
Full-scale IQ (FSIQ) score of 137.
142177481
142183049
5569
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13335.p1
N/A
F
ASD
ASD proband from SSC quad family 13335. SRS score N/A.
Full-scale IQ (FSIQ) score of 18.
142165621
142365366
199746
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11108.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
142165621
142357119
191499
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11948.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
143050938
143056452
5515
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12613.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
142165621
142365179
199559
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12631.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
142165621
142357119
191499
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13400.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
142165621
142365179
199559
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13716.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
142165621
142365366
199746
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13727.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
142204691
142371335
166645
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13727.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
142449428
142459383
9956
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14119.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
142165621
142365179
199559
GRCh38
Duplication
Yes
levy_11_ASD_discovery_cases-11948.p1
NA
F
ASD
NA
NA
143048116
143082352
34237
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam982Proband10744
N/A
F
ASD
Additional clinical profile info N/A
ID
142126158
142296748
170591
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case13335.p1
NA
F
ASD/Autism
Case also identified with de novo ACP2 and ZNF420 missense mutations. No additional clinical info available.
Low IQ. Non verbal IQ, 25
142103779
142365179
261401
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case1232_3
NA
M
ASD
NA
NA
141812798
141941937
129140
Unknown
Duplication
Yes
pinto_10_ASD_discovery_cases-case1232_3
NA
M
ASD
NA
NA
141497453
141667984
170532
Unknown
Duplication
Yes
poultney_13_ASD_discovery_cases-case01HI2143A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU080904; NDAR ID NDAR_INVGY108HH0)
142093954
142365368
271415
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case104085S
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
143054792
143069710
14919
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case111520L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
142215220
142271637
56418
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case134846
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
144252568
144285510
32943
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case72085
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
142049075
142092613
43539
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_560
5 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
139463576
140109397
645822
GRCh38
Duplication
No
rosenfeld_10_ASD_discovery_cases-case10306
NA
NA
ASD
NA
NA
143400305
143572801
172496
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1130-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
142103779
142353090
249312
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1207-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
142103779
142353090
249312
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
142116873
142353090
236218
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11108.p1
8.1
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
142102385
142366468
264084
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11115.p1
13.8
F
Autism
NA
Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
142243326
142277684
34359
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
141219704
141224683
4980
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12512.p1
8.3
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 82; verbal IQ, 95
142103779
142360537
256759
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
139838939
139887952
49014
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12613.p1
12.6
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
142103779
142360537
256759
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12631.p1
17.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 76
142106756
142360537
253782
GRCh38
Duplication
No
shen_10_ASD_discovery_cases-ASD-09-036
NA
F
ASD
NA
NA
142403667
142755646
351980
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
krumm_13_ASD_discovery_controls-control11057.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11057. SRS score of 34.
142165621
142365366
199746
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control11108.s1
N/A
M
Control
Unaffected sibling from SSC quad family 11108. SRS score of 51.
142165621
142365179
199559
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control11304.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11304. SRS score of 51.
142165621
142365179
199559
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control12631.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12631. SRS score N/A.
142170324
142365366
195043
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_controls-control13176.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13176. SRS score of 42.
142177481
142183049
5569
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13335.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13335. SRS score of 36.
142165621
142365366
199746
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11057.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
142165621
142365366
199746
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11108.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
142165621
142357119
191499
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11304.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
142165621
142365179
199559
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12512.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
142213513
142357121
143609
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12613.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
142165621
142357119
191499
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12631.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
142165621
142365179
199559
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14119.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
142165621
142365179
199559
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11948.s1
NA
M
Control
NA
NA
143048116
143082352
34237
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C29918A
N/A
F
Control
NIMH Control (NIMH ID 15210)
142165620
142365368
199749
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36383A
N/A
M
Control
NIMH Control (NIMH ID 85807)
142165620
142365368
199749
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36643A
N/A
M
Control
NIMH Control (NIMH ID 97046)
142165620
142365368
199749
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41783A
N/A
M
Control
NIMH Control (NIMH ID 95046)
142165620
142365368
199749
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C41920
N/A
M
Control
NIMH Control (NIMH ID 55831)
139371721
139476461
104741
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11057.s1
5.9
M
Control (matched sibling)
NA
NA
142102385
142366468
264084
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
142102385
142366468
264084
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11304.s1
8.3
F
Control (matched sibling)
NA
NA
142102385
142366468
264084
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11321.s1
15.2
F
Control (matched sibling)
NA
NA
142103779
142366468
262690
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11471.s1
7.8
F
Control (matched sibling)
NA
NA
140161414
140169126
7713
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
139900227
139902682
2456
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11511.s1
9
M
Control (matched sibling)
NA
NA
142906821
142913576
6756
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11883.s1
6.1
F
Control (matched sibling)
NA
NA
139900227
139902682
2456
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11948.s1
11.8
M
Control (matched sibling)
NA
NA
143051472
143081209
29738
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12512.s1
11.3
F
Control (matched sibling)
NA
NA
142100008
142360537
260530
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12613.s1
12.6
M
Control (matched sibling)
NA
NA
142103779
142360537
256759
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12631.s1
18.8
M
Control (matched sibling)
NA
NA
142102385
142347092
244708
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
alayadhi_16_ASD_discovery_cases-caseAUT5-1
qPCR
De novo (CNV not observed in either parent)
Multiplex
CLSTN2
alayadhi_16_ASD_discovery_cases-caseAUT5-2
qPCR
De novo (CNV not observed in either parent)
Multiplex
CLSTN2
alayadhi_16_ASD_discovery_cases-caseAUT9-1
qPCR
De novo (CNV not observed in either parent)
Multiplex
CLSTN2
alayadhi_16_ASD_discovery_cases-caseAUT9-2
qPCR
De novo (CNV not observed in either parent)
Multiplex
CLSTN2
gai_11_ASD_replication_cases-AU062703
Inherited
CLSTN2
girirajan_12_ASD/DD/ID_discovery_cases-case35334
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
ACTG1P1,RN7SKP124,RN7SL724P,TRMT112P5,COPB2,RBP1,MRPS22,NMNAT3,RBP2,CLSTN2
girirajan_13a_ASD_discovery_cases-11948.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
U2SURP
girirajan_13a_ASD_discovery_cases-12831.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
U2SURP
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002709
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP124,RN7SL724P,TRMT112P5,RBP1,NMNAT3,CLSTN2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005256
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CLSTN2-AS1,KRT18P35,TRIM42,SLC25A36,SPSB4,RPL23AP41,PXYLP1,ZBTB38,CLSTN2,RASA2
krumm_13_ASD_discovery_cases-case11108.p1
Maternal
Simplex
Not segregated
GK5,XRN1
krumm_13_ASD_discovery_cases-case12631.p1
Maternal
Simplex
Not segregated
GK5,XRN1
krumm_13_ASD_discovery_cases-case13176.p1
Paternal
Simplex
Not segregated
GK5
krumm_13_ASD_discovery_cases-case13335.p1
Paternal
Simplex
Not segregated
GK5,XRN1
krumm_15_ASD_discovery_cases-case11108.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GK5,XRN1
krumm_15_ASD_discovery_cases-case11948.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
U2SURP
krumm_15_ASD_discovery_cases-case12613.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GK5,XRN1
krumm_15_ASD_discovery_cases-case12631.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GK5,XRN1
krumm_15_ASD_discovery_cases-case13400.p1
1M-Duov3
Maternal
Simplex
Segregated
GK5,XRN1
krumm_15_ASD_discovery_cases-case13716.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
GK5,XRN1
krumm_15_ASD_discovery_cases-case13727.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
GK5,XRN1
krumm_15_ASD_discovery_cases-case13727.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
ATR
krumm_15_ASD_discovery_cases-case14119.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GK5,XRN1
levy_11_ASD_discovery_cases-11948.p1
Paternal
Simplex
Not segregated
U2SURP
nava_13_ASD_discovery_cases-Fam982Proband10744
Unknown
Simplex
Unknown
RNU6-425P,TFDP2,GK5
o'roak_12_ASD_discovery_cases-case13335.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
RNU6-425P,TFDP2,GK5,XRN1
pinto_10_ASD_discovery_cases-case1232_3
Illumina550;Affy5.0
paternal
NA
NA
TRIM42
pinto_10_ASD_discovery_cases-case1232_3
Illumina550;Affy5.0
paternal
NA
NA
CLSTN2
poultney_13_ASD_discovery_cases-case01HI2143A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU6-425P,TFDP2,GK5,XRN1
prasad_12_ASD_discovery_cases-case104085S
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case111520L
Unknown
Unknown
Unknown
SPSB4
prasad_12_ASD_discovery_cases-case134846
Unknown
Unknown
Unknown
U2SURP
prasad_12_ASD_discovery_cases-case72085
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_560
Unknown
Unknown
ACTG1P1,RN7SKP124,RN7SL724P,TRMT112P5,RBP1,NMNAT3,RBP2,CLSTN2
rosenfeld_10_ASD_discovery_cases-case10306
FISH
Paternal
Unknown
Unknown
GK5,XRN1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1130-0
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-425P,TFDP2,GK5,XRN1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1207-0
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-425P,TFDP2,GK5,XRN1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
Not tested by qPCR
Unknown
Unknown
Unknown
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_cases-11108.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_cases-11115.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12409.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12512.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_cases-12539.p1
Maternal
Simplex (trio)
NA
TRMT112P5
sanders_11_ASD_discovery_cases-12613.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_cases-12631.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RNU6-425P,TFDP2,GK5,XRN1
shen_10_ASD_discovery_cases-ASD-09-036
Unknown
NA
NA
RNU6-1294P,RNU1-100P,RPL6P9,RNA5SP143,RN7SKP25,PLS1-AS1,XRN1,ATR,TRPC1,PLS1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control11057.s1
Paternal
Simplex
GK5,XRN1
krumm_13_ASD_discovery_controls-control11108.s1
Maternal
Simplex
GK5,XRN1
krumm_13_ASD_discovery_controls-control11304.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Paternal
Simplex
GK5,XRN1
krumm_13_ASD_discovery_controls-control12631.s1
Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
GK5,XRN1
krumm_13_ASD_discovery_controls-control13176.s1
Paternal
Simplex
GK5
krumm_13_ASD_discovery_controls-control13335.s1
Paternal
Simplex
GK5,XRN1
krumm_15_ASD_discovery_controls-control11057.s1
Illumina 1M
Paternal
GK5,XRN1
krumm_15_ASD_discovery_controls-control11108.s1
Illumina 1M
Maternal
GK5,XRN1
krumm_15_ASD_discovery_controls-control11304.s1
Illumina 1M
Paternal
GK5,XRN1
krumm_15_ASD_discovery_controls-control12512.s1
Illumina 1MDuo
Paternal
GK5,XRN1
krumm_15_ASD_discovery_controls-control12613.s1
Illumina 1MDuo
Paternal
GK5,XRN1
krumm_15_ASD_discovery_controls-control12631.s1
Illumina 1MDuo
Maternal
GK5,XRN1
krumm_15_ASD_discovery_controls-control14119.s1
Omni2.5-4v1
Paternal
GK5,XRN1
levy_11_ASD_discovery_controls-11948.s1
Paternal
Simplex
NA
U2SURP
poultney_13_ASD_discovery_controls-control04C29918A
Unknown
GK5,XRN1
poultney_13_ASD_discovery_controls-control04C36383A
Unknown
GK5,XRN1
poultney_13_ASD_discovery_controls-control04C36643A
Unknown
GK5,XRN1
poultney_13_ASD_discovery_controls-control05C41783A
Unknown
GK5,XRN1
poultney_13_ASD_discovery_controls-control05C41920
Unknown
COPB2,RBP2
sanders_11_ASD_discovery_controls-11057.s1
Paternal
Simplex (quad)
NA
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_controls-11108.s1
Maternal
Simplex (quad)
NA
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_controls-11304.s1
Paternal
Simplex (quad)
NA
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_controls-11321.s1
Paternal
Simplex (quad)
NA
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_controls-11471.s1
Maternal
Simplex (quad)
NA
CLSTN2
sanders_11_ASD_discovery_controls-11511.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11511.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11883.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11948.s1
Paternal
Simplex (quad)
NA
U2SURP
sanders_11_ASD_discovery_controls-12512.s1
Paternal
Simplex (quad)
NA
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_controls-12613.s1
Paternal
Simplex (quad)
NA
RNU6-425P,TFDP2,GK5,XRN1
sanders_11_ASD_discovery_controls-12631.s1
Maternal
Simplex (quad)
NA
RNU6-425P,TFDP2,GK5,XRN1
No Animal Model Data Available