1p21.3CNV Type: Deletion-Duplication
Largest CNV size: 1500000 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.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
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
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
560000
1
0
1
carter_10_ASD_discovery_cases_1
Male simplex autistic proband previously identified in Marshall et al. 2008 CNV study; born to non-consanguineous parents of Indian descent.
1
Autism (ADI-R & ADOS criteria)
13 yrs. 9 mo.
Male
1100000
1
0
1
carter_10_ASD_discovery_cases_2
Autistic siblings born to non-consanguineous Caucasian parents.
2
ASD (ADI-R & ADOS criteria)
6 yrs.-7 yrs.11 mo.
50% Male
1500000
2
0
2
carter_10_ASD_discovery_cases_3
Male autistic child born to Canadian parents of European ancestry.
1
Autism (ADI-R & ADOS criteria)
11 yrs 4 mo.
Male
10000
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
63006
2
3
5
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
1827000
1
0
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
1364652
2
2
4
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
345479
2
0
2
mahjani_21_ASD_discovery_cases
Study participants in the PAGES cohort, a large ongoing population-based cohort study in Sweden that started in 2012 with the overall aim to identify possible genetic and environmental risk factors for ASD.
996
Cases diagnosed with ASD according to ICD-9 and ICD-10 criteria.
Average age at diagnosis, 8.2 yrs.
70% Male
1193399
1
0
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
1092500
1
0
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
1400000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
57468
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
1102792
4
1
5
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
375231
8
1
9
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
166585
1
0
1
willemsen_11_ID_discovery_cases
Patients ascertained by genome-wide array analysis during a cohort study in patients with idiopathic ID at Dept. of Human Genetics, Nijmegen, The Netherlands or during routine diagnostic evaluation of ID at Depts. Of Clinical Genetics & Neuropediatrics, Lille, France
5
All five cases presented with intellectual disability (ID); three cases also presented with autistic features.
Range, 18-42 yrs.
60.0% Male
2450000
5
0
5
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
658
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
1114032
3
0
3
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
carter_10_ASD_discovery_controls
1123 controls from northern Germany (Popgen), 1234 controls recruited by Ottawa Heart Institute, 1287 controls recruited by SAGE, 2026 controls from CHOP
5670
Controls
NA
1
0
1
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
646269
1
3
4
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
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
0
0
0
0
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
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)
1102792
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.
59773
6
1
7
stamouli_18_ASD/NDD_discovery_controls
Unaffected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Control (unaffected) individual following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities and
N/A
N/A
166585
1
0
1
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
658
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
carter_10_ASD_discovery_cases_1
Indian
Array SNP
Affymetrix 500K
QMPSF
carter_10_ASD_discovery_cases_2
Northern European
Array SNP
Affymetrix 6.0
HMM
Affymetrix Genotyping Console v.2.1, Birdseed v.2
qPCR
carter_10_ASD_discovery_cases_3
European
aCGH
Agilent 1x1M
ADM-2
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
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
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
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
mahjani_21_ASD_discovery_cases
Sweden
WES
Infinium OmniExpress Exome
PennCNV
NA
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
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
willemsen_11_ID_discovery_cases
Netherlands and France
aCGH, array SNP
Affymetrix 250K, Agilent 44K
HMM
CNAG v.2.0
qPCR
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
carter_10_ASD_discovery_controls
Array SNP, solid phase hybridization
Affymetrix 6.0, HumanHap 550 BeadChip, Illumina Infinium 1 M
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
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
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
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
battaglia_13_DD/ID/ASD_discovery_cases-case5
5 yrs. 5 mos.
F
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
97720463
98280896
560434
GRCh38
Deletion
Yes
carter_10_ASD_discovery_cases_1-patient1
13 yrs. 9 mo.
M
Autism
Diagnosis of autism (ADI-R & ADOS). Early gross motor milestones met. Severely delayed language (age equivalency on OWLS of 3 yrs). Overall adaptive functioning <1 %ile (Vineland Adaptive Behavior Scales). One febrile seizure at 2 yrs. Aggressive behavior noted at 3 yrs., treated with risperidone. Patient taking risperidone (0.5 mg 3X daily) and methylphenidate (10 mg 3x daily) at time of last assessment. Normal hearing. Patient was previously included in Marshall et al. 2008 CNV study.
Non-verbal cognitive skills <1 %ile (Leiter-R)
97094023
98186523
1092501
GRCh38
Deletion
Yes
carter_10_ASD_discovery_cases_2-patient2
6 yrs.
F
Autism
Diagnosis of autism (based on ADI-R & ADOS). Severely delayed expressive & receptive language (<20 months on OWLS & PPVT-4). Severely delayed adaptive skills (<1 %ile on Vineland Adaptive Behavior Scales in all domains except gross motor). Early gross motor milestones met. Minor dysmorphic features (upslanting palpebral fissures, hooded lids, short nose, ear lengths +2SD). Small joint hypermobility. Growth percentiles (5 yrs): head circumference 95th, weight 75th, height 50th).
NA
96504006
98005669
1501664
GRCh38
Deletion
Yes
carter_10_ASD_discovery_cases_2-patient3
7 yrs 11 mo.
M
ASD
Diagnosis of ASD (based on ADI-R & ADOS). Early gross motor milestones met. First words at 3.5 yrs. Language skills in low-average range on OWLS and average range of PPVT-4 (39th %ile). Dysmorphic features: epicanthal folds, upslanting papebral fissures, ear lengths +2 SD. Small joint hypermobility. Growth percentiles (7 yrs): head circumference 98th, height 50th. Weight +4 SD.
Full-scale IQ 99 (average range ), verbal IQ 91, performance IG 105.
96504006
98005669
1501664
GRCh38
Deletion
Yes
carter_10_ASD_discovery_cases_3-patient4
11 yrs 4 mo.
M
Autism
Diagnosis of autism (based on ADI-R & AODS) at 4 yrs. Normal motor development. Use of single words at 11 months; at 20 months, head banging and loss of 20-word vocabulary. Began ABA program shortly after diagnosis, which continued for 2 years; by 11 yrs 4 mo., was in a regular classroom with additional social skills programming. No medication for behavioral problems.OWLS: listening comprehension at 7 yr. 10 mo. level, oral expression at 8 yr. level. No dysmorphic features. Growth percentiles: height 5th, weight 25th. Head circumference +1 SD.
Full-scale IQ 96 (39th percentile, WASI), performance IQ 102, verbal IQ 90.
97699323
97709727
10405
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14096_1660
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97826596
97886405
59810
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case21008_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
97447581
97479736
32156
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5389_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98076121
98133588
57468
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6142_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
96893502
96956508
63007
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case6164_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
98883280
98936668
53389
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13346.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
98771856
100591856
1820001
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002224
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
94471888
94588229
116342
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002801
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96554406
97919058
1364653
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004632
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96991619
97565945
574327
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005240
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
97417705
97919058
501354
GRCh38
Duplication
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3444
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
97401830
97747308
345479
GRCh38
Deletion
Yes
kushima_22_SCZ_discovery_cases-caseSCZ3494
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
97401830
97747308
345479
GRCh38
Deletion
Yes
mahjani_21_ASD_discovery_cases-case217
NA
M
ASD
Diagnosis of ASD according to ICD-9 and ICD-10 criteria.
97892186
99085584
1193399
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0215-006
NA
M
ASD
severe language delay and repetitive behavior
LOF 31
97094023
98186523
1092501
GRCh38
Deletion
Yes
munnich_19_ASD_discovery_cases-case1
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
97720463
99065029
1344567
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5389_3
NA
M
ASD
NA
NA
98076121
98133588
57468
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case138645L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
97905169
97917290
12122
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case58449
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
97323530
98426321
1102792
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case82062L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
97699323
97709727
10405
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case82302
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
97762074
97773772
11699
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case82363L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
98308412
98374498
66087
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11050.p1
5.7
F
Autism
NA
Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
94879929
94886359
6431
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11098.p1
9.2
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 91
94666373
94694981
28609
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11128.p1
11.4
M
Autism
NA
Full-scale IQ, 33; non-verbal IQ, 32; verbal IQ 35
97215786
97228886
13101
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11475.p1
7.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 86; verbal IQ, 110
94666373
94688723
22351
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11519.p1
6.7
M
Autism
NA
Full-scale IQ, 50; non-verbal IQ, 84; verbal IQ, 23
97683496
97692035
8540
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12019.p1
9.1
M
ASD
NA
Full-scale IQ, 67; non-verbal IQ, 74; verbal IQ, 54
95231934
95249328
17395
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12175.p1
5.1
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
97215786
97227767
11982
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12749.p1
7.3
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 86; verbal IQ, 59
95359631
95734862
375232
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12788.p1
12.5
M
Autism
NA
Full-scale IQ, 93; non-verbal IQ, 94; verbal IQ, 95
95231934
95253385
21452
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_cases-family73_Twin_2
N/A
N/A
ASD/NDD
Case is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic group
98571695
98738279
166585
GRCh38
Deletion
No
willemsen_11_ID_discovery_cases-case1
42 yrs.
M
Intellectual disability and autistic features
Behavioral characteristics: autistic features, tendency to overeat, shy & friendly. Dysmorphic features: deeply set eyes, broad nasal tip, long ears, thick lower lip. Ocular problems: myopia. Weight 90th %ile. Family history: deceased parents known to have low cognitive abilites.
Borderline-mild ID (Total IQ 73, verbal IQ 65, performance IQ 90)
97261856
99011856
1750001
GRCh38
Deletion
Yes
willemsen_11_ID_discovery_cases-case2
38 yrs.
M
Intellectual disability and autistic features
Behavioral characteristics: Autistic features, tendency to overeat, self-mutilation, aggressive outbursts, shy & friendly. Speech deficits. Dysmorphic features: broad nasal tip, long ears, macrostomia, thick lower lip. Ocular problems: astigmatism. Weight > 98th %ile. Family history: deceased parents known to have low cognitive abilites.
Mild-moderate ID (Total IQ 52)
97261856
99011856
1750001
GRCh38
Deletion
Yes
willemsen_11_ID_discovery_cases-case3
N/A
F
Intellectual disability
Family history: deceased parents known to have low cognitive abilites.
Mild-moderate ID
97261856
99011856
1750001
GRCh38
Deletion
Yes
willemsen_11_ID_discovery_cases-case4
33 yrs.
M
Intellectual disability and autistic features
Behavioral characteristics: Autistic features, tendency to vereat, shy & friendly. Speech deficits. Dysmorphic features: deeply set eyes, full cheeks, micrognathia, broad nasal tip, long ears, thick lower lip. Ocular problems: Astigmatism, myopia. Weight 98th %ile.
Mild ID (Total IQ 62, verbal IQ 59, performance IQ 71)
97081856
98491856
1410001
GRCh38
Deletion
Yes
willemsen_11_ID_discovery_cases-case5
18 yrs.
F
Intellectual disability
Behavioral characteristics: Aggressive outbursts, shy & friendly. Dysmorphic features: full cheeks, long ears, thick lower lip. Weight > 98th %ile.
Mild ID (Total IQ 66)
96031856
98481856
2450001
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case26
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
94690029
94690686
658
GRCh38
Duplication
No
yuen_17_ASD_discovery_cases-case1-0215-006
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Speech Language Impairment
97083412
98197444
1114033
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0231-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
97666444
97680444
14001
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-caseAU3729303
N/A
N/A
ASD
Case cohort: AGRE. Clinical description: N/A
97228945
97238944
10000
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
carter_10_ASD_discovery_controls-control1
NA
F
Control
NA
NA
NA
NA
NA
Unknown
Deletion
No
engchuan_15_ASD_discovery_controls-controlB326674_1007853788
N/A
N/A
Control
No previous psychiatric history
94536044
94865189
329146
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB598652_1007852874
N/A
N/A
Control
No previous psychiatric history
97767665
97905893
138229
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB979317_1007842460
N/A
N/A
Control
No previous psychiatric history
97306046
97351208
45163
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902958_902958
N/A
N/A
Control
No previous psychiatric history
97434996
98081265
646270
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11098.s1
5.7
F
Control (matched sibling)
NA
NA
94662990
94688723
25734
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11282.s1
8.8
M
Control (matched sibling)
NA
NA
97790956
97850729
59774
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12380.s1
17
F
Control (matched sibling)
NA
NA
95231934
95253385
21452
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12574.s1
11.3
F
Control (matched sibling)
NA
NA
95231934
95249328
17395
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12602.s1
6.8
F
Control (matched sibling)
NA
NA
97215786
97225449
9664
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13041.s1
9
M
Control (matched sibling)
NA
NA
97215786
97225449
9664
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13169.s1
16
M
Control (matched sibling)
NA
NA
95231934
95244773
12840
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family73_Twin_1
N/A
N/A
Control
Control is from a dizygotic twin pair from the Discordant ASD/Discordant NDD diagnostic subgroup
98571695
98738279
166585
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case5
FISH or qPCR
De novo
Unknown
Unknown
DPYD-AS2,MIR2682,MIR137,NFU1P2,LINC01776,MIR137HG,DPYD
carter_10_ASD_discovery_cases_1-patient1
QMPSF
De novo
Simplex
NA
SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DPYD-IT1,DPYD-AS1,MIR137HG,DPYD
carter_10_ASD_discovery_cases_2-patient2
qPCR
Maternal
Multiplex
Segregated
RN7SL831P,NDUFS5P2,RPL7P9,RN7SKP270,SEC63P1,RPL26P9,DPYD-AS2,DPYD-IT1,PTBP2,DPYD-AS1,MIR137HG,DPYD
carter_10_ASD_discovery_cases_2-patient3
qPCR
Maternal
Multiplex
Segregated
RN7SL831P,NDUFS5P2,RPL7P9,RN7SKP270,SEC63P1,RPL26P9,DPYD-AS2,DPYD-IT1,PTBP2,DPYD-AS1,MIR137HG,DPYD
carter_10_ASD_discovery_cases_3-patient4
qPCR
Maternal
Simplex
NA
DPYD
engchuan_15_ASD_discovery_cases-case14096_1660
Unknown
DPYD
engchuan_15_ASD_discovery_cases-case21008_1
Unknown
DPYD
engchuan_15_ASD_discovery_cases-case5389_3
Unknown
NFU1P2
engchuan_15_ASD_discovery_cases-case6142_3
Unknown
engchuan_15_ASD_discovery_cases-case6164_3
Unknown
PLPPR5
girirajan_13a_ASD_discovery_cases-13346.p1
Unknown
Simplex
Unknown
HMGB3P10,RNU4-75P,RNU6-750P,RNU6-1318P,RPL23AP90,BRI3P1,MIR553,BCAS2P2,GPR88,PLPPR4,PALMD,MFSD14A,SASS6,LRRC39,DBT,RTCA-AS1,PLPPR5,LINC01708,FRRS1,AGL,SLC35A3,TRMT13,RTCA,CDC14A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002224
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
F3,ABCD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002801
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL831P,NDUFS5P2,RPL7P9,RN7SKP270,SEC63P1,RPL26P9,DPYD-AS2,DPYD-IT1,PTBP2,DPYD-AS1,DPYD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004632
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SEC63P1,DPYD-IT1,DPYD-AS1,DPYD
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005240
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
SEC63P1,RPL26P9,DPYD-AS2,DPYD-IT1,DPYD
kushima_22_SCZ_discovery_cases-caseSCZ3444
qRT-PCR
Unknown
DPYD,RPL26P9,SEC63P1,DPYD-IT1
kushima_22_SCZ_discovery_cases-caseSCZ3494
qRT-PCR
Unknown
DPYD,RPL26P9,SEC63P1,DPYD-IT1
mahjani_21_ASD_discovery_cases-case217
Unknown
DPYD,SNX7,PLPPR5,MIR137HG,MIR137,LINC01776,NFU1P2,MIR2682
marshall_08_ASD_discovery_cases-SK0215-006
qPCR, qmPCR
De novo
Simplex-CHR
NA
SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DPYD-IT1,DPYD-AS1,MIR137HG,DPYD
munnich_19_ASD_discovery_cases-case1
FISH
Unknown
DPYD-AS2,MIR2682,MIR137,NFU1P2,LINC01776,MIR137HG,SNX7,PLPPR5,DPYD
pinto_10_ASD_discovery_cases-case5389_3
Agilent1M
maternal
NA
NA
NFU1P2
prasad_12_ASD_discovery_cases-case138645L
Unknown
Unknown
Unknown
DPYD
prasad_12_ASD_discovery_cases-case58449
Unknown
Unknown
Unknown
MIR137,DPYD
prasad_12_ASD_discovery_cases-case82062L
qPCR
Maternal
Unknown
Unknown
DPYD
prasad_12_ASD_discovery_cases-case82302
qPCR
Paternal
Unknown
Unknown
DPYD
prasad_12_ASD_discovery_cases-case82363L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11050.p1
Paternal
Simplex (trio)
NA
SLC44A3
sanders_11_ASD_discovery_cases-11098.p1
Paternal
Simplex (quad-proband matched)
Not segregated
SLC44A3-AS1
sanders_11_ASD_discovery_cases-11128.p1
Paternal
Simplex (trio)
NA
DPYD-AS1,DPYD
sanders_11_ASD_discovery_cases-11475.p1
Maternal
Simplex (quad-proband matched)
Segregated
SLC44A3-AS1
sanders_11_ASD_discovery_cases-11519.p1
Unknown
Simplex (quad-proband matched)
Segregated
DPYD
sanders_11_ASD_discovery_cases-12019.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
RWDD3,TMEM56-RWDD3
sanders_11_ASD_discovery_cases-12175.p1
Maternal
Simplex (quad-proband matched)
Not segregated
DPYD-AS1,DPYD
sanders_11_ASD_discovery_cases-12749.p1
Paternal
Simplex (quad-proband matched)
Not segregated
LINC01761
sanders_11_ASD_discovery_cases-12788.p1
Unknown
Simplex (quad-proband matched)
Not segregated
RWDD3,TMEM56-RWDD3
stamouli_18_ASD/NDD_discovery_cases-family73_Twin_2
Paternal
Simplex
Not segregated (CNV also present in unaffected twin)
SNX7
willemsen_11_ID_discovery_cases-case1
qPCR
Possibly both parents
Unknown
Multiplex
SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DPYD-IT1,LINC01776,DPYD-AS1,MIR137HG,SNX7,PLPPR5,DPYD
willemsen_11_ID_discovery_cases-case2
qPCR
Possibly both parents
Unknown
Multiplex
SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DPYD-IT1,LINC01776,DPYD-AS1,MIR137HG,SNX7,PLPPR5,DPYD
willemsen_11_ID_discovery_cases-case3
qPCR
Possibly both parents
Unknown
Multiplex
SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DPYD-IT1,LINC01776,DPYD-AS1,MIR137HG,SNX7,PLPPR5,DPYD
willemsen_11_ID_discovery_cases-case4
qPCR
De novo
Unknown
SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DPYD-IT1,LINC01776,DPYD-AS1,MIR137HG,DPYD
willemsen_11_ID_discovery_cases-case5
De novo
Unknown
RNU1-130P,UBE2WP1,EEF1A1P11,RN7SL831P,NDUFS5P2,RPL7P9,RN7SKP270,SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DPYD-IT1,LINC01776,LINC01787,PTBP2,DPYD-AS1,MIR137HG,DPYD
yin_16_ASD_discovery_cases-case26
Unknown
Unknown
Unknown
SLC44A3-AS1
yuen_17_ASD_discovery_cases-case1-0215-006
Agilent 1M
De novo
Simplex
Segregated
SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DPYD-IT1,DPYD-AS1,MIR137HG,DPYD
yuen_17_ASD_discovery_cases-case1-0231-003
CNV not detected by WGS, identified via Affymetrix CytoScan HD
Maternal
Multiplex
Not segregated
DPYD
yuen_17_ASD_discovery_cases-caseAU3729303
Not available
Paternal
Multiplex
Not segregated
DPYD-AS1,DPYD
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
carter_10_ASD_discovery_controls-control1
Unknown
NA
NA
engchuan_15_ASD_discovery_controls-controlB326674_1007853788
Unknown
KATNBL1P2,MIR378G,F3,SLC44A3,SLC44A3-AS1
engchuan_15_ASD_discovery_controls-controlB598652_1007852874
Unknown
DPYD-AS2,DPYD
engchuan_15_ASD_discovery_controls-controlB979317_1007842460
Unknown
DPYD-AS1,DPYD
engchuan_15_ASD_discovery_controls-controlHABC_902958_902958
Unknown
SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,MIR137HG,DPYD
sanders_11_ASD_discovery_controls-11098.s1
Paternal
Simplex (quad)
NA
SLC44A3-AS1
sanders_11_ASD_discovery_controls-11282.s1
Paternal
Simplex (quad)
NA
DPYD-AS2,DPYD
sanders_11_ASD_discovery_controls-12380.s1
Maternal
Simplex (quad)
NA
RWDD3,TMEM56-RWDD3
sanders_11_ASD_discovery_controls-12574.s1
Unknown
Simplex (quad)
NA
RWDD3,TMEM56-RWDD3
sanders_11_ASD_discovery_controls-12602.s1
Paternal
Simplex (quad)
NA
DPYD-AS1,DPYD
sanders_11_ASD_discovery_controls-13041.s1
Paternal
Simplex (quad)
NA
DPYD-AS1,DPYD
sanders_11_ASD_discovery_controls-13169.s1
Unknown
Simplex (quad)
NA
RWDD3,TMEM56-RWDD3
stamouli_18_ASD/NDD_discovery_controls-family73_Twin_1
Paternal
Simplex
SNX7
No Animal Model Data Available