18q21.1CNV Type: Deletion-Duplication
Largest CNV size: 116160 bp
Statistics Box:
Number of Reports: 16
Number of Reports: 16
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
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.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
9978
1
0
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
545
1
0
1
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
437088
1
0
1
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
17343
1
0
1
itsara_10_ASD_discovery_cases
ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
1330
ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
24433
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
40109
0
4
4
kushima_18_SCZ_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
2458
Cases were diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 44 years
55.0% Male
49581
1
0
1
kushima_22_BPD_discovery_cases
Japanese bipolar disorder probands evaluated for copy number variation from an initial cohort of 1,843 probands before quality control.
1818
Cases diagnosed with bipolar disorder (BPD) according to DSM-5 criteria.
Median age, 48 yrs.
46.7% Male
43322
1
0
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
49582
1
0
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
33844
0
1
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
116160
0
1
1
pfundt_16_nonNDD_discovery_cases
Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
1430
Craniofacial anomalies (n=31), disorders of sexual development (n=38), immunodeficiency (n=24), metabolic disorders (n=34), hereditary cancer (n=74), renal disorders (n=56), complex phenotypes (n=183), mitochondrial disorders (n=142), muscle disorders (n=171), deafness (n=223), movement disorders (n=217), or blindness (n=237)
N/A
N/A
823199
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)
1276
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
126057
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
102773
4
10
14
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
125953
0
1
1
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
893383
1
0
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
57822
2
1
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bacchelli_20_ASD_discovery_controls
Anonymized DNA samples from Italian individuals with no psychiatric disorders
365
Control
N/A
54.52% Male
18426
0
1
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
87655
2
4
6
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
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
1427
0
2
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
16417
0
1
1
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
53353
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
106946
1
0
1
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
33844
0
1
1
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
126057
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.
101371
2
7
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
125953
N/A
N/A
N/A
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
57822
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
itsara_10_ASD_discovery_cases
Solid phase hybridization
Illumina HumanHap550v1 and v3 SNP array
HMM
Illumina GenomeStudio
aCGH (custom NimbleGen 12 X 135)
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_SCZ_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_BPD_discovery_cases
Japan
aCGH
Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
pfundt_16_nonNDD_discovery_cases
N/A
WES
Solid5500xl, IlluminaHiSeq2000
CoNIFER
Array SNP (Affymetrix CytoScan HD)
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
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
qPCR
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
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)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
larson_17_ASD_discovery_controls
N/A
N/A
N/A
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
None
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_discovery_cases-caseSJD_54.3
N/A
M
PDD-NOS
Case from REACH cohort
47825539
47835517
9979
GRCh38
Deletion
Yes
brandler_18_ASD_replication_cases-caseSSC05665
N/A
M
ASD
Case from SSC_phase2 cohort
50297405
50297949
545
GRCh38
Deletion
No
girirajan_13b_ASD_discovery_cases-57105104492
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
N/A
48623987
49061076
437090
GRCh38
Deletion
No
husson_20_ASD_discovery_cases-case55
6 yrs.
M
ASD
Diagnosis of ASD. Family history: one sibling with ASD does not carry the 18q21.1 deletion, while another sibling with language delay does carry it.
47098046
47115388
17343
GRCh38
Deletion
Yes
itsara_10_ASD_discovery_cases-HI1493
NA
NA
Autism
NA
NA
50360828
50385261
24434
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12149.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
46641955
46682064
40110
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12555.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
50375830
50392247
16418
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13026.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
50380125
50392247
12123
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13272.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
50375830
50392247
16418
GRCh38
Duplication
Yes
kushima_18_SCZ_discovery_cases-caseSCZ0265
21 yrs.
F
Schizophrenia
Behavioral/psychiatric evaluation: onset of schizophrenia at 12 years of age (core symptoms include auditory hallucinations, bizarre delusions), refusal to attend school. Family history: positive for schizophrenia (SCZ).
IQ > 70
47026162
47075742
49581
GRCh38
Deletion
N/A
kushima_22_BPD_discovery_cases-caseBD1902
NA
NA
Bipolar disorder
Diagnosis of bipolar disorder according to DSM-5 criteria.
46926136
46969457
43322
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ0265
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
47026161
47075742
49582
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case107
N/A
N/A
ASD and psychosis
No additional clinical information available. Patient carries CNV that is present in DGV (less than 1.5%) but was not present in 1124 ASD cases without psychosis from the Simons Simplex Collection.
44532402
44566246
33844
GRCh37
Duplication
No
marshall_08_ASD_discovery_cases-SK0304-003
NA
M
ASD
NA
NA
50321473
50437632
116160
GRCh38
Duplication
Yes
pfundt_16_nonNDD_discovery_cases-case61
N/A
N/A
Non-NDD
Disease cohort: complex phenotype. Description: IER3IP1 deletion
46968694
47845485
876792
GRCh38
Deletion
Yes
poultney_13_ASD_discovery_cases-case99HI0868A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU002003; NDAR ID NDAR_INVXV984GE7)
49490454
49491729
1276
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case99006
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
42537749
42663805
126057
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11010.p1
4.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 68; verbal IQ, 60
48510420
48511303
884
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11044.p1
5.5
M
Aspergers
NA
Full-scale IQ, 106; non-verbal IQ, 101; verbal IQ 112
50351271
50440988
89718
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11255.p1
12.7
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 108; verbal IQ 130
46947932
46961952
14021
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11538.p1
5.8
M
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 85
48501469
48511303
9835
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
50370257
50371634
1378
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11590.p1
10.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 102; verbal IQ, 98
49691751
49709473
17723
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11768.p1
8.4
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 84; verbal IQ, 89
50370257
50371634
1378
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11776.p1
6.1
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 51; verbal IQ, 76
49350849
49359835
8987
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12066.p1
7.5
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 131; verbal IQ, 95
48510420
48511303
884
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12229.p1
10.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 89; verbal IQ, 80
48691403
48767614
76212
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12347.p1
8.8
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 125; verbal IQ, 107
48498612
48511303
12692
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
50342844
50440988
98145
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12634.p1
4.2
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 75; verbal IQ, 63
48501469
48511303
9835
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13001.p1
6.3
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 91; verbal IQ, 46
48935416
49038189
102774
GRCh38
Duplication
No
walker_13_ASD_discovery_cases-case1-0381-003
N/A
M
ASD
N/A
N/A
46702301
46828253
125953
GRCh38
Duplication
No
wang_18_TS_discovery_cases-case25305.p1
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 1 cohort; no additional clinical information available
47136299
48029681
893383
GRCh38
Deletion
Yes
yin_16_ASD_discovery_cases-case534
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
47037791
47088951
51161
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case535
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
47820576
47878397
57822
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case536
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
47911437
47919306
7870
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
bacchelli_20_ASD_discovery_controls-control10499
N/A
M
Control
Control
47034504
47052929
18426
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB326251_0067942627
N/A
N/A
Control
No previous psychiatric history
49853060
49893382
40323
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
N/A
N/A
Control
No previous psychiatric history
46936125
47044091
107967
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB890930_1007874394
N/A
N/A
Control
No previous psychiatric history
47032541
47108385
75845
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900112_900112
N/A
N/A
Control
No previous psychiatric history
48435645
48522886
87242
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900690_900690
N/A
N/A
Control
No previous psychiatric history
46205278
46292936
87659
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902651_902651
N/A
N/A
Control
No previous psychiatric history
46930193
46961952
31760
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12285.s1
N/A
M
Control
Unaffected sibling from SSC quad family 12285. SRS score of 47.
49482344
49483771
1428
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_controls-control12420.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12420. SRS score of 35.
50274976
50275444
469
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control13272.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
50375830
50392247
16418
GRCh38
Duplication
Yes
kushima_18_ASD/SCZ_discovery_controls-controlCON2026
41 yrs.
M
Control
This individual had no history of mental disorders based upon responses to questionnaires or self-reporting.
47023049
47076401
53353
GRCh38
Deletion
N/A
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON2026
NA
NA
Control
Control with no history of mental disorders based on responses to questionnaires or self-reporting.
46969456
47076401
106946
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
48498612
48511303
12692
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11045.s1
5.1
M
Control (matched sibling)
NA
NA
46939611
46961651
22041
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11067.s1
16.7
F
Control (matched sibling)
NA
NA
48510420
48511303
884
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11347.s1
17
M
Control (matched sibling)
NA
NA
48510420
48511303
884
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11393.s1
9.1
M
Control (matched sibling)
NA
NA
48459618
48476387
16770
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11731.s1
5.3
F
Control (matched sibling)
NA
NA
47036186
47047483
11298
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11768.s1
7
F
Control (matched sibling)
NA
NA
50370257
50371634
1378
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12261.s1
21.5
M
Control (matched sibling)
NA
NA
48896975
48898526
1552
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12555.s1
18.9
F
Control (matched sibling)
NA
NA
50339617
50440988
101372
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_cases-caseSJD_54.3
PCR or SNP data validation
Paternal
SMAD2
brandler_18_ASD_replication_cases-caseSSC05665
No validation step reported
Maternal
girirajan_13b_ASD_discovery_cases-57105104492
Unknown
Unknown
Unknown
MIR4743,MIR4744,SMAD7,CTIF,DYM
husson_20_ASD_discovery_cases-case55
ddPCR, QMPSF, or aCGH
Paternal
Multiplex
Not segregated
HDHD2,KATNAL2
itsara_10_ASD_discovery_cases-HI1493
aCGH (custom NimbleGen 12 X 135)
De novo
Multiplex
SKA1
krumm_15_ASD_discovery_cases-case12149.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
ST8SIA5,LOXHD1
krumm_15_ASD_discovery_cases-case12555.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
SKA1
krumm_15_ASD_discovery_cases-case13026.p1
1M-Duov3
Paternal
Simplex
Segregated
SKA1
krumm_15_ASD_discovery_cases-case13272.p1
1M-Duov3
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
SKA1
kushima_18_SCZ_discovery_cases-caseSCZ0265
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Not simplex
ELOA3,ELOA2,KATNAL2
kushima_22_BPD_discovery_cases-caseBD1902
qRT-PCR
Unknown
KATNAL2,ELOA3CP
kushima_22_SCZ_discovery_cases-caseSCZ0265
qRT-PCR
Unknown
ELOA2,KATNAL2
larson_17_ASD_discovery_cases-case107
Unknown
Unknown
KATNAL2, TCEB3CL, TCEB3C, TCEB3B
marshall_08_ASD_discovery_cases-SK0304-003
qPCR, qmPCR
Unknown
NA
NA
SKA1
pfundt_16_nonNDD_discovery_cases-case61
Array SNP (Affymetrix CytoScan HD)
ELOA3C,ELOA3B,ELOA3,ELOA2,RNU6-1131P,MIR4527,TPMTP1,HDHD2,IER3IP1,SKOR2,KATNAL2,MIR4527HG,SMAD2
poultney_13_ASD_discovery_cases-case99HI0868A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RPL17-C18orf32,RPL17,SNORD58A,SNORD58B
prasad_12_ASD_discovery_cases-case99006
Unknown
Unknown
Unknown
PIAS2,ST8SIA5
sanders_11_ASD_discovery_cases-11010.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11044.p1
Paternal
Simplex (trio)
NA
SKA1
sanders_11_ASD_discovery_cases-11255.p1
Paternal
Simplex (trio)
NA
KATNAL2
sanders_11_ASD_discovery_cases-11538.p1
Unknown
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11590.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11768.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11776.p1
Maternal
Simplex (trio)
NA
DYM
sanders_11_ASD_discovery_cases-12066.p1
Both parents
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-12229.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CTIF
sanders_11_ASD_discovery_cases-12347.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12555.p1
Maternal
Simplex (quad-proband matched)
Not segregated
SKA1
sanders_11_ASD_discovery_cases-12634.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13001.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SMAD7
walker_13_ASD_discovery_cases-case1-0381-003
Unknown
Simplex
Unknown
ST8SIA5,PIAS2
wang_18_TS_discovery_cases-case25305.p1
qPCR
De novo
RNU6-1131P,MIR4527,TPMTP1,MTCO2P2,HDHD2,IER3IP1,SKOR2,MIR4527HG,SMAD2,ZBTB7C
yin_16_ASD_discovery_cases-case534
Unknown
Unknown
Unknown
KATNAL2
yin_16_ASD_discovery_cases-case535
Unknown
Unknown
Unknown
MTCO2P2,SMAD2
yin_16_ASD_discovery_cases-case536
Unknown
Unknown
Unknown
SMAD2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10499
Unknown
ELOA2,KATNAL2
engchuan_15_ASD_discovery_controls-controlB326251_0067942627
Unknown
MYO5B
engchuan_15_ASD_discovery_controls-controlB811881_1007870375
Unknown
ELOA3D,ELOA3C,ELOA3B,ELOA3,ELOA2,KATNAL2
engchuan_15_ASD_discovery_controls-controlB890930_1007874394
Unknown
ELOA2,HDHD2,KATNAL2
engchuan_15_ASD_discovery_controls-controlHABC_900112_900112
Unknown
RNA5SP456,POLR3GP2
engchuan_15_ASD_discovery_controls-controlHABC_900690_900690
Unknown
C18orf25
engchuan_15_ASD_discovery_controls-controlHABC_902651_902651
Unknown
KATNAL2
krumm_13_ASD_discovery_controls-control12285.s1
Paternal
Simplex
RPL17-C18orf32,C18orf32
krumm_13_ASD_discovery_controls-control12420.s1
Paternal
Simplex
MBD1
krumm_15_ASD_discovery_controls-control13272.s1
1M-Duov3
Maternal
SKA1
kushima_18_ASD/SCZ_discovery_controls-controlCON2026
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
ELOA3B,ELOA3,ELOA2,KATNAL2
kushima_22_ASD/BPD/SCZ_discovery_controls-controlCON2026
qRT-PCR
Unknown
ELOA2,KATNAL2,ELOA3CP
sanders_11_ASD_discovery_controls-11010.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11045.s1
Paternal
Simplex (quad)
NA
KATNAL2
sanders_11_ASD_discovery_controls-11067.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11347.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11393.s1
Maternal
Simplex (quad)
NA
RNA5SP456
sanders_11_ASD_discovery_controls-11731.s1
Paternal
Simplex (quad)
NA
KATNAL2
sanders_11_ASD_discovery_controls-11768.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12261.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12555.s1
Maternal
Simplex (quad)
NA
SKA1
No Animal Model Data Available