1q21.2CNV Type: Deletion-Duplication
Largest CNV size: 1451926 bp
Statistics Box:
Number of Reports: 18
Number of Reports: 18
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
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
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.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
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
1122835
0
2
2
bourgois_23_ASD/ADHD/DD_discovery_cases
Cases with 1q21.1-q21.2 copy number variation (from an initial cohort of 34 previously unreported individuals referred to the Department of Clinical Genetics at the Caen hospital for developmental delay, intellectual disability, dysmorphic features and/or congenital anomalies from 2008 to 2020)
30
The most common neurodevelopmental/behavioral phenotypes observed in cases from this report included autism spectrum disorder (n=3), ADHD (n=8), and developmental delay (n=14).
Range, fetus-51 yrs.
60% Male
526516
0
2
2
calderoni_20_ASD_discovery_cases
Females referred consecutively to the Autism Spectrum Disorders Unit of the Children Neuropsychiatry Hospital between 2015 and 2016
90
Clinical diagnosis of ASD based on DSM-5 criteria
Range, 21 mos.-17 yrs.
Female
613047
0
1
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
184
0
1
1
chaudhry_14_ASD/DD/ID_discovery_cases
Individuals with PTCHD1 deletions (Xp22.11 locus) not previously published
11
Most common diagnoses: ASD or autistic features, developmental delay (DD), and intellectual disability (ID)
Range, 1.25-10 yrs.
90.91% Male
654000
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
963818
1
1
2
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
74276
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
380347
2
0
2
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
20753
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
1451926
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
N/A
0
8
8
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
6
Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
Range, 8-19 yrs.
83.33% Male
1419819
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
44950
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
10781
2
0
2
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
2387000
0
1
1
tuncay_23_ASD_discovery_cases
ASD probands from East African families with at least one child affected with ASD (30 simplex families, 3 multiplex families).
36
Cases diagnosed with ASD using ADOS, ADI-R, and DSM-V.
Mean age, 14.8 yrs./median age, 12.7 yrs.
77.78% Male
100430
4
1
5
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
260000
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
39885
0
1
1
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
631658
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
0
0
0
0
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
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)
44950
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.
13064
2
1
3
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
39885
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
bourgois_23_ASD/ADHD/DD_discovery_cases
France
aCGH
Agilent 8x60K
ADM-2
Agilent Cytogenomics v.4.0.2.21
RT-qPCR
calderoni_20_ASD_discovery_cases
Italy
aCGH
Agilent 8x60K
qPCR
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
chaudhry_14_ASD/DD/ID_discovery_cases
Predominantly Caucasian
Array SNP
Affymetrix CytoScan HD
None
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
aCGH (NimbleGen 135K array)
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
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
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
picinelli_16_ASD/ADHD/DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint G3 4x180K
ADM-2
Agilent Cytogenomic Software v2.7
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
tuncay_23_ASD_discovery_cases
East Africa (Ethiopia, Eritrea, Kenya)
WGS
Illumina NovaSeq 6000
NA
CNVkit, GISTIC2.0.
None
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
FISH
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
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
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
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-case11DG0690
N/A
N/A
Developmental delay
Global developmental delay, central hypotonia with macrocephaly and dysmorphic features, a right paraspinal lipoma, cutis aplasia on scalp, and atrial septal defect. Consanguineous parents.
Global developmental delay
143398568
144392430
993863
GRCh38
Duplication
No
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG1345
N/A
F
Developmental delay and ADHD
Global developmental delay, ADHD with dysmorphic features, microcephaly, short stature, clinodactyly, syndactyly, hypotonia, tiptoe gait. Consanguineous parents.
Global developmental delay
143398568
144392430
993863
GRCh38
Duplication
No
bourgois_23_ASD/ADHD/DD_discovery_cases-case33
12 yrs.
M
Developmental delay and stereotypy
Birth/neonatal history: no abnormalities reported. Developmental milestones: psychomotor delay. Language and communication evaluation: language disorder. Motor and musculoskeletal evaluation: no abnormalities reported. Behavioral/psychiatric evaluation: mood disorder/social or behavioral anomalies, stereotypies. Epilepsy/seizures: none reported. Brain imaging: not determined. Additional medical history: no additional abnormalities reported. Dysmorphic features: prominent forehead, deep-set eyes, broad nose. Growth parameters: excessive growth (length or weight). Family history: positive for a history of learning difficulties or psychomotor delay.
Learning difficulties, adapted education.
150048142
150574657
526516
GRCh38
Triplication
Yes
calderoni_20_ASD_discovery_cases-caseP7
21 mos.
F
ASD
ADOS module (toddler) evaluation: Social Affect score 9, Restricted and Repetitive Behaviors score 1, Calibrated Severity Score 5. Language and communication evaluation: verbal.
IQ > 70
147211160
147824207
613047
GRCh37
Duplication
Yes
celestino-soper_11_ASD_discovery_cases-11303
NA
M
ASD
NA
NA
150068565
150068749
185
GRCh38
Duplication
No
chaudhry_14_ASD/DD/ID_discovery_cases-caseM1
2.8 yrs.
M
ASD
Psychiatric/behavioral disorders: ASD. Neurological features: none. Dysmorphic features: frontal bossing, supraorbital puffiness, full lips. Growth abnormalities: none.
Developmental/cognitive functioning: fine motor and speech delays.
147986516
148640398
654000
GRCh37
Deletion
No
engchuan_15_ASD_discovery_cases-case4456_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
149959622
150922883
963262
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5305_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
150106578
150148889
42312
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-12691.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
151360448
151434724
74277
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001120
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
150034379
150414215
379837
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001121
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
150034379
150414215
379837
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case3021
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
149039930
149060682
20753
Unknown
Duplication
No
marshall_08_ASD_discovery_cases-SK0283-003
NA
F
ASD
NA
NA
151309988
152761914
1451927
GRCh38
Duplication
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient123
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient124
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient125
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient126
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient127
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient128
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient129
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient130
N/A
N/A
DD/ID/MCA
N/A
N/A
N/A
N/A
N/A
GRCh37
Duplication
N/A
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
N/A
M
ASD and intellectual disability
Case met diagnostic criteria for ASD with both ADOS and ADI scores falling into the autism spectrum range. Birth/neonatal history: born after artificial insemination by ICSI. Developmental milestones: normal motor development; delay in expressive language. Behavioral/psychiatric evaluation: anxiety; OCD; attention deficit disorder (ADD). Family history: mother suffers from major depression, psoriasis, and eating disorder; father's family includes one case of intellectual disability, a paternal grandmother affected by depression and autoimmune thyroiditis, and a paternal uncle diagnosed with OCD.
Mild intellectual disability (TIQ score of 64); memory impairment
147824148
149243967
1419819
GRCh37
Deletion
No
prasad_12_ASD_discovery_cases-case93773L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
148342590
148387539
44950
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11659.p1
6.4
F
Autism
NA
Full-scale IQ, 88; non-verbal IQ, 89; verbal IQ, 94
150238804
150248450
9647
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12197.p1
5.8
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
150238804
150249546
10743
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case86
7 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Dysmorphism
147381357
149768855
2387000
GRCh37
Duplication
No
tuncay_23_ASD_discovery_cases-caseMCD-009-3
NA
NA
ASD
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
147544806
147551900
7095
GRCh37
Homozygous deletion
No
tuncay_23_ASD_discovery_cases-caseMCD-030-3
NA
NA
ASD
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
147564065
147664494
100430
GRCh37
Deletion
No
tuncay_23_ASD_discovery_cases-caseMCD-030-3
NA
NA
ASD
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
148233938
148261747
27810
GRCh38
Duplication
No
tuncay_23_ASD_discovery_cases-caseMCD-030-3
NA
NA
ASD
Case diagnosed with ASD according to ADOS, ADI-R, and DSM-V.
147952777
148014580
61804
GRCh38
Deletion
No
xu_16_ASD/DD/ID_discovery_cases-case18
11 yrs.
M
ASD, developmental delay, and seizures
Case with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis). Seizures, developmental delay, flat feet, mild dysmorphic features including deep set eyes, mild hypertelorism, small chin, and short neck.
N/A
N/A
260000
NCBI36
Deletion
Yes
yin_16_ASD_discovery_cases-case35
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
149761062
149800941
39880
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
bacchelli_20_ASD_discovery_controls-control10415
N/A
M
Control
Control
147194005
147825662
631658
GRCh37
Deletion
No
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control5
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
GRCh37
Deletion
N/A
sanders_11_ASD_discovery_controls-11037.s1
6.5
F
Control (matched sibling)
NA
NA
151168256
151176938
8683
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11108.s1
10.3
M
Control (matched sibling)
NA
NA
150777437
150790501
13065
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11659.s1
4.8
F
Control (matched sibling)
NA
NA
150238804
150248450
9647
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-case11DG0690
Unknown
Unknown
Unknown
RNA5SP533,NKAIN1P1,PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,SRGAP2D
al-qattan_14_DD/ID/ASD/ADHD/EP_discovery_cases-case11DG1345
Unknown
Unknown
Unknown
RNA5SP533,NKAIN1P1,PFN1P12,RNU1-114P,RNVU1-17,RNU1-92P,RNVU1-18,FAM91A3P,LINC02591,RNU1-143P,FCGR1CP,HIST2H3PS2,RPL22P5,IGKV1OR1-1,RNA5SP529,PPIAL4E,NBPF17P,HIST2H2BB,FAM72C,DRD5P2,SRGAP2D
bourgois_23_ASD/ADHD/DD_discovery_cases-case33
RT-qPCR
Unknown
ECM1,APH1A,PLEKHO1,MRPS21,ADAMTSL4,C1orf54,ANP32E,TARS2,CIART,ADAMTSL4-AS1,MCL1,ADAMTSL4-AS2,MIR4257,FALEC,MIR6878,RN7SL473P,RNU2-17P,RN7SL600P,RN7SL480P,PRPF3,VPS45,RPRD2,CA14
calderoni_20_ASD_discovery_cases-caseP7
qPCR
Paternal
celestino-soper_11_ASD_discovery_cases-11303
Unknown
Simplex
NA
VPS45
chaudhry_14_ASD/DD/ID_discovery_cases-caseM1
Unknown
Unknown
Unknown
RNVU1-19, NBPF8, PPIAL4D, PPIAL4E, PPIAL4F, NBPF14, NBPF9, NBPF25P, NBPF15
engchuan_15_ASD_discovery_cases-case4456_1
Unknown
RN7SL480P,RNU2-17P,APH1A,CIART,MIR6878,ECM1,FALEC,MIR4257,RN7SL473P,RN7SL600P,MCL1,RNU6-1042P,UBE2D3P3,RNU6-1309P,RPS27AP6,CYCSP51,PLEKHO1,ANP32E,CA14,C1orf54,MRPS21,TARS2,ADAMTSL4,ADAMTSL4-AS1,GOLPH3L,HORMAD1,CTSK,CTXND2,VPS45,PRPF3,RPRD2,ENSA,CTSS,ARNT,OTUD7B
engchuan_15_ASD_discovery_cases-case5305_3
Unknown
VPS45
girirajan_13a_ASD_discovery_cases-12691.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
PSMB4,SELENBP1,POGZ
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001120
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL480P,RNU2-17P,APH1A,CIART,PLEKHO1,ANP32E,CA14,C1orf54,MRPS21,VPS45,PRPF3,RPRD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001121
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SL480P,RNU2-17P,APH1A,CIART,PLEKHO1,ANP32E,CA14,C1orf54,MRPS21,VPS45,PRPF3,RPRD2
kanduri_15_ASD_discovery_cases-case3021
De novo
Unknown
Unknown
LOC101929780 (non-coding RNA, intronic)
marshall_08_ASD_discovery_cases-SK0283-003
qPCR, qmPCR
Unknown
NA
NA
RFX5,PSMB4,RNY4P25,MIR554,RNU6-1062P,RNU6-662P,MRPL9,TDRKH-AS1,LINGO4,C2CD4D,THEM5,KRT8P28,NBPF18P,SPTLC1P4,TCHHL1,HMGN3P1,CRNN,LCE5A,CRCT1,LCE3E,LCE3D,LCE3C,LCE3B,LCE3A,LCEP4,LCE2D,LCE2C,LCE2B,LCE4A,C1orf68,LCEP2,LCEP1,KPRP,PI4KB,SELENBP1,POGZ,TUFT1,CELF3,RIIAD1,OAZ3,RORC,THEM4,S100A10,TCHH,RPTN,HRNR,FLG2,CGN,SNX27,TDRKH,PUDPP2,FLG-AS1,FLG,LCE2A,S100A11
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient123
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG5
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient124
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG5
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient125
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG5
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient126
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG5
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient127
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG5
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient128
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG5
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient129
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG5
nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient130
Unknown
Unknown
Unknown
Minimum CNV gene content: SMG5
picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient6
Maternal
Multi-generational
Unknown
FLJ39739, PPIAL4B, PPIAL4A, NBPF14, PPIAL4D, PPIAL4F, NBPF15, NBPF16, PPIAL4E, LOC645166
prasad_12_ASD_discovery_cases-case93773L
Unknown
Unknown
Unknown
VPS45
sanders_11_ASD_discovery_cases-11659.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12197.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sansovic_17_DD/ID/ASD_discovery_cases-case86
Paternal
NBPF19,GJA8,GPR89B,NBPF11,PPIAL4A,PPIAL4C,NBPF26,PPIAL4D,PPIAL4E,PPIAL4F,NBPF14,NBPF9,NBPF15,FAM231D,LOC388692,LOC100996741,HIST2H2BF,FCGR1A
tuncay_23_ASD_discovery_cases-caseMCD-009-3
Unknown
BCL9,FMO5,RNVU1-7,RNF115,ACP6,GPR89B,POLR3GL,GNRHR2,LIX1L,ANKRD35,HJV,NBPF12,NUDT17,NUDT4P2,PDIA3P1,GJA5,GJA8,ANKRD34A,NOTCH2NLA,OR13Z3P,OR13Z1P,OR13Z2P,SSBL4P,CCT8P1,NBPF13P,GPR89A,PDZK1P1,NBPF10,RPL7AP15,HYDIN2,LINC00624,PFN1P8,PDE4DIPP5,RNVU1-8,PRKAB2,PDZK1,NBPF25P,LINC01719,RNVU1-6,SEC22B4P,MIR6736,LINC02804,PPIAL4H,LIX1L-AS1,RN7SL261P,RNU6-1071P,RNU1-129P,RNU1-151P,RNA5SP536,PEX11B,ITGA10,RNVU1-25,RNVU1-29,CHD1L,RBM8A,POLR3C,PIAS3,CD160,TXNIP
tuncay_23_ASD_discovery_cases-caseMCD-030-3
Unknown
ABHD17AP1,PFN1P4
tuncay_23_ASD_discovery_cases-caseMCD-030-3
Unknown
tuncay_23_ASD_discovery_cases-caseMCD-030-3
Unknown
GPR89B,PDZK1P1,LINC02804,RNU1-129P
xu_16_ASD/DD/ID_discovery_cases-case18
FISH
De novo
ARNT,SETDB1,CERS2,ANXA9,FAM63A,PRUNE,CDC42SE1,BNIPL,MLLT11,C1orf56
yin_16_ASD_discovery_cases-case35
Unknown
Unknown
Unknown
FCGR1A,HIST2H2BF
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10415
Unknown
RP11-433J22.3,RP11-314N2.2,GJA8,GPR89B,RP6-74O6.2,PDZK1P1,RNU1-129P,RP6-74O6.3,RNVU1-9,XXyac-YX155B6.2,NBPF24,PFN1P4,ABHD17AP1,BX842679.1,XXyac-YX155B6.5,RNA5SP58,XXyac-YX155B6.6,RP11-301M17.2,RP11-301M17.1,RNU1-120P,RP11-495P10.6,RP11-495P10.9,RP11-495P10.7,RP11-495P10.5,RP11-495P10.4,RP11-495P10.3,Y_RNA,RNU1-122P
nguyen_13_DD/ID/MCA/ASD_discovery_controls-control5
Unknown
Unknown
Minimum CNV gene content: SMG5
sanders_11_ASD_discovery_controls-11037.s1
Paternal
Simplex (quad)
NA
SCNM1,TMOD4,VPS72
sanders_11_ASD_discovery_controls-11108.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11659.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available