3q22.1CNV Type: Deletion-Duplication
Largest CNV size: 71988 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Retrospective chart review of patients (n=584) with a neurocognitive phenotype (mainly referred from pediatric neurology clinics) seen by a single clinical geneticist from September 2007 to July 2013
584
Inclusion criteria: presence of a neurocognitive phenotype (i.e., syndromic and non-syndromic cases of developmental delay, autism, intellectual disability, and epilepsy) with a normal karyotype
N/A
N/A
309212
1
0
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
492000
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
2508
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
4293
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
601465
1
2
3
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
2247
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
31446
11
0
11
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)
2251
1
0
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
21895
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
71988
14
1
15
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
19475
0
1
1
woodbury-smith_14_ASD_discovery_cases
Probands from 19 extended ASD pedigrees (defined as at least three ASD cases spread across at least two nuclear families); 6 families recruited in Canada, 13 families recruited in the United States
19
Diagnosis of ASD made using combination of ADI-R, ADOS, and clinical judgment in conjunction with DSM-IV criteria.
N/A
N/A
1003
0
1
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
106160
1
27
28
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
2508
1
0
1
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
2247
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
2247
3
0
3
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)
30224
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)
21895
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.
71988
7
2
9
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
19475
N/A
N/A
N/A
woodbury-smith_14_ASD_discovery_controls
Platform-matched controls from the KORA and COGEND datasets
2988
Control
N/A
N/A
N/A
283
0
283
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
106160
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases
Saudi Arabia
Array SNP
Affymetrix 6.0, Affymetrix Cyto-V2, Affymetrix CytoScan HD
HMM
Affymetrix GeneChip Command Console v.1.2, Affymetrix ChAS version Cyto 2.0.0.195
None
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
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_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
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
woodbury-smith_14_ASD_discovery_cases
US and Canada
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
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
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
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
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
woodbury-smith_14_ASD_discovery_controls
Predominantly European
Solid phase hybridization
Illumina HumanOmni2.5 BeadChip
PennCNV, QuantiSNP, iPattern
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00087
N/A
M
Developmental delay
Global developmental delay, dysmorphic features with microcephaly. Non-consanguineous parents. Mother not tested.
Global developmental delay
129963455
130272667
309213
GRCh38
Deletion
No
asadollahi_14_NDD_discovery_cases-case62848
5 yrs.
F
Developmental delay
Developmental delay, hyperactivity, microcephaly
130946963
131438955
491993
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC11405
N/A
M
ASD
Case from SSC_phase1 cohort
130952151
130954659
2509
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
133612584
133616877
4294
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002175
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
132662034
133263499
601466
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002637
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
132639520
132972626
333107
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004287
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
131273462
131383846
110385
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11676.p1
N/A
F
ASD
ASD proband from SSC quad family 11676. SRS score of 90.
Full-scale IQ (FSIQ) score of 78.
132558970
132561217
2248
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case12304.p1
N/A
M
ASD
ASD proband from SSC quad family 12304. SRS score of 65.
Full-scale IQ (FSIQ) score of 83.
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11176.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132558970
132561219
2250
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11566.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case11676.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12304.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12304.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
130413512
130414152
641
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12362.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12831.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13135.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13266.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13677.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14134.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
130439521
130470967
31447
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case00HI1396B
N/A
M
ASD
ASD case from AGRE (AGRE ID AU062003; NDAR ID NDAR_INVLE469CR9)
132558969
132561219
2251
GRCh38
Deletion
No
prasad_12_ASD_discovery_cases-case90651
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
134224232
134246126
21895
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseL948
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
133059148
133074850
15703
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11158.p1
10.7
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 71; verbal IQ, 39
131561185
131564163
2979
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11176.p1
12.5
M
Autism
NA
Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
132554869
132559581
4713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11206.p1
6.1
M
Autism
NA
Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
131983499
131994173
10675
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11598.p1
5.3
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 68; verbal IQ, 87
132553697
132559581
5885
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11676.p1
7.1
F
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 79; verbal IQ, 83
132553697
132559581
5885
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
130413358
130414007
650
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12314.p1
6.2
M
ASD
NA
Full-scale IQ, 116; non-verbal IQ, 121; verbal IQ, 103
132554869
132559581
4713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12340.p1
15.5
F
Autism
NA
Full-scale IQ, 26; non-verbal IQ, 29; verbal IQ, 19
134415394
134437513
22120
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12362.p1
7.5
M
Autism
NA
Full-scale IQ, 122; non-verbal IQ, 119; verbal IQ, 121
132554869
132559581
4713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12831.p1
4.5
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 94; verbal IQ, 64
132554869
132559581
4713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12939.p1
12.8
M
Autism
NA
Full-scale IQ, 20; non-verbal IQ, 28; verbal IQ, 11
130458896
130530884
71989
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13097.p1
9.9
M
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 37; verbal IQ, 27
131561185
131571787
10603
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
131561185
131571787
10603
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
132554869
132559581
4713
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
131561185
131571787
10603
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case1-0007-003
N/A
F
ASD
N/A
N/A
133023861
133043335
19475
GRCh38
Duplication
No
woodbury-smith_14_ASD_discovery_cases-case2
N/A
N/A
ASD
Family history: CNV found in 1 additional ASD case, 1 case with broad autism phenotype (BAP), and 2 non-ASD cases.
131993052
131994054
1003
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case124
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130088069
130089956
1888
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case125
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case126
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case127
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case128
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case129
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case130
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case131
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case132
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case133
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case134
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case135
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case136
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case137
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case138
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case139
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case140
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case141
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case142
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case143
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case144
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case145
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case146
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case147
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case148
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case149
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case150
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case151
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
130089956
130196115
106160
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-controlSSC11401
N/A
M
Control
Control from SSC_phase1 cohort
130952151
130954659
2509
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_controls-control13660.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13660. SRS score of 46.
132558970
132561217
2248
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13793.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13793. SRS score of 45.
132558970
132561217
2248
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control13135.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13266.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132558970
132561217
2248
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_controls-control13660.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
132558970
132561217
2248
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_controls-control04C28760A
N/A
M
Control
NIMH Control (NIMH ID 97777)
132530996
132561219
30224
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11176.s1
8.8
F
Control (matched sibling)
NA
NA
132554869
132559581
4713
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
131993111
131997261
4151
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12340.s1
10.3
F
Control (matched sibling)
NA
NA
134415394
134437513
22120
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
131561185
131582961
21777
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12449.s1
5.3
M
Control (matched sibling)
NA
NA
131552595
131571787
19193
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12497.s1
10.8
F
Control (matched sibling)
NA
NA
131561185
131571787
10603
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12939.s1
5.7
M
Control (matched sibling)
NA
NA
130458896
130530884
71989
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13076.s1
19.5
F
Control (matched sibling)
NA
NA
131561185
131571787
10603
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13266.s1
7.9
F
Control (matched sibling)
NA
NA
132554869
132559581
4713
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case08DG00087
Unknown
Unknown
Unknown
TRH,OR7E129P,OR7E21P,LINC02014,LINC02021,ENPP7P3,SNRPCP8,ALG1L2,FAM86HP,COL6A4P2
asadollahi_14_NDD_discovery_cases-case62848
MLPA
Paternal
Unknown
Unknown
RNU6-726P,NUDT16P1,ASTE1,NUDT16,ATP2C1,NEK11
brandler_18_ASD_discovery_cases-caseSSC11405
PCR or SNP data validation
Paternal
ATP2C1
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
TOPBP1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002175
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
UBA5,NPHP3,TMEM108-AS1,NPHP3-ACAD11,NPHP3-AS1,TMEM108
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002637
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
HSPA8P19,UBA5,NPHP3,ACAD11,NPHP3-ACAD11,NPHP3-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004287
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NUDT16P1,NUDT16,NEK11
krumm_13_ASD_discovery_cases-case11676.p1
Maternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_13_ASD_discovery_cases-case12304.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case11176.p1
Illumina 1M
Paternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case11566.p1
Illumina 1M
Paternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case11676.p1
Illumina 1M
Maternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case12304.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case12304.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
COL6A5
krumm_15_ASD_discovery_cases-case12362.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case12831.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case13135.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case13266.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case13677.p1
1M-Duov3
Maternal
Simplex
Segregated
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_cases-case14134.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
COL6A5
poultney_13_ASD_discovery_cases-case00HI1396B
Unknown
Unknown (likely multiplex/AGRE)
Unknown
ACAD11,NPHP3-ACAD11
prasad_12_ASD_discovery_cases-case90651
Unknown
Unknown
Unknown
TMEM108
prasad_12_ASD_discovery_cases-caseL948
Unknown
Unknown
Unknown
CPNE4
sanders_11_ASD_discovery_cases-11158.p1
Unknown
Simplex (quad-proband matched)
Segregated
CPNE4
sanders_11_ASD_discovery_cases-11176.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_cases-11206.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR5704,CPNE4
sanders_11_ASD_discovery_cases-11598.p1
Paternal
Simplex (trio)
NA
ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_cases-11676.p1
Maternal
Simplex (quad-proband matched)
Segregated
ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_cases-11964.p1
Unknown
Simplex (quad-proband matched)
Not segregated
COL6A5
sanders_11_ASD_discovery_cases-12314.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_cases-12340.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12362.p1
Maternal
Simplex (trio)
NA
ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_cases-12831.p1
Paternal
Simplex (trio)
NA
ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_cases-12939.p1
Maternal
Simplex (quad-proband matched)
Not segregated
COL6A5
sanders_11_ASD_discovery_cases-13097.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CPNE4
sanders_11_ASD_discovery_cases-13233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CPNE4
sanders_11_ASD_discovery_cases-13266.p1
Maternal
Simplex (quad-proband matched)
Not segregated
ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_cases-13296.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CPNE4
walker_13_ASD_discovery_cases-case1-0007-003
Unknown
Simplex
Unknown
TMEM108
woodbury-smith_14_ASD_discovery_cases-case2
Unknown
Extended multiplex
Unknown
CPNE4
yin_16_ASD_discovery_cases-case124
Unknown
Unknown
Unknown
LINC02014,ALG1L2
yin_16_ASD_discovery_cases-case125
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case126
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case127
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case128
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case129
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case130
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case131
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case132
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case133
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case134
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case135
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case136
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case137
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case138
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case139
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case140
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case141
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case142
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case143
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case144
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case145
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case146
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case147
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case148
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case149
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case150
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
yin_16_ASD_discovery_cases-case151
Unknown
Unknown
Unknown
LINC02014,LINC02021,ENPP7P3,ALG1L2,FAM86HP
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC11401
PCR or SNP data validation
Paternal
ATP2C1
krumm_13_ASD_discovery_controls-control13660.s1
Paternal
Simplex
ACAD11,NPHP3-ACAD11
krumm_13_ASD_discovery_controls-control13793.s1
Maternal
Simplex
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_controls-control13135.s1
Illumina 1MDuo
Paternal
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_controls-control13266.s1
Illumina 1MDuo
Maternal
ACAD11,NPHP3-ACAD11
krumm_15_ASD_discovery_controls-control13660.s1
1M-Duov3
Paternal
ACAD11,NPHP3-ACAD11
poultney_13_ASD_discovery_controls-control04C28760A
Unknown
DNAJC13,ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_controls-11176.s1
Paternal
Simplex (quad)
NA
ACAD11,NPHP3-ACAD11
sanders_11_ASD_discovery_controls-11563.s1
Maternal
Simplex (quad)
NA
CPNE4
sanders_11_ASD_discovery_controls-12340.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Unknown
Simplex (quad)
NA
CPNE4
sanders_11_ASD_discovery_controls-12449.s1
Unknown
Simplex (quad)
NA
CPNE4
sanders_11_ASD_discovery_controls-12497.s1
Maternal
Simplex (quad)
NA
CPNE4
sanders_11_ASD_discovery_controls-12939.s1
Maternal
Simplex (quad)
NA
COL6A5
sanders_11_ASD_discovery_controls-13076.s1
Paternal
Simplex (quad)
NA
CPNE4
sanders_11_ASD_discovery_controls-13266.s1
Maternal
Simplex (quad)
NA
ACAD11,NPHP3-ACAD11
No Animal Model Data Available