5p13.2CNV Type: Deletion-Duplication
Largest CNV size: 368953 bp
Statistics Box:
Number of Reports: 20
Number of Reports: 20
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-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Duplication
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
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
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
De novo 11q deletion including SHANK2 in a patient with global developmental delay.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Duplication
Diagnostic yield of patients with undiagnosed intellectual disability
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladeshi NDD probands who underwent chromosomal microarray testing to identify CNVs from 2017 to 2020.
212
Individuals presented with autism spectrum disorder (ASD), ADHD, developmental delay (DD), intellectual disability (ID), and/or epilepsy/seizures, among other neurodevelopmental phenotypes; 95 individuals were diagnosed with ASD using DSM-V, ADOS, or ADOS-2.
NA
68.40% Male
491273
0
1
1
ching_10_ASD/DD/MR_discovery_cases
Subjects referred to Children's Hospital Boston from March 2007 to Jan. 2009
3540
Developmental disorders [autism spectrum disorders (ASD), developmental delay (DD), and/or mental retardation (MR)] or multiple congenital malformations
518000
0
1
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
205288
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
343424
1
10
11
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
372355
0
2
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
293000
0
2
2
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
699990
2
3
5
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
791090
1
3
4
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
199057
0
1
1
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
1488000
0
1
1
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
681184
0
1
1
marcou_17_DD/ID_discovery_cases
Third child born to parents with unremarkable family history presenting with a de novo 11q13.2-q13.4 deletion that included the SHANK2 gene
1
Case presented with global developmental delay, intellectual disability, microcephaly, and dysmorphic features
12 yrs.
Female
26851
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
368953
0
1
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)
347682
0
2
2
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
244708
0
3
3
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
23674
8
1
9
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
886000
0
1
1
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
661383
1
0
1
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
54859
0
1
1
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
50727
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
288969
0
4
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
75473
1
1
2
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
284174
1
1
2
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)
244708
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.
23674
4
1
5
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
661383
1
0
1
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
54859
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
50727
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
akter_23_ASD/ADHD/DD/ID_discovery_cases
Bangladesh
CMA
Illumina Global Screening Array-24 BeadChip
CNVPartition
Illumina Genomestudio
None
ching_10_ASD/DD/MR_discovery_cases
aCGH
Agilent 244K
ADM-2
Agilent Feature Extraction V9.0, Agilent CGH Analytics V3.4
None
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
marcou_17_DD/ID_discovery_cases
N/A
Array SNP
Affymetrix Cytoscan HD
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
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
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
stamouli_18_ASD/NDD_discovery_cases
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
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
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
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
stamouli_18_ASD/NDD_discovery_controls
Swedish
Solid phase hybridization
Illumina Infinium PsychArray-24 v1.1
PennCNV, QuantiSNP, iPattern, iPsychCNV
None
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
akter_23_ASD/ADHD/DD/ID_discovery_cases-case122
3.42 yrs.
M
Developmental delay
Developmental delay, speech delay, excessive salivation, less responsive, poor sleep, inability to sit, facial dysmorphism. Growth parameters: height 0.87 m, weight 10 kg, head circumference 45 cm. Family history: born to non-consanguineous parents.
36771680
37262952
491273
GRCh38
Duplication
No
ching_10_ASD/DD/MR_discovery_cases-case11
8 yrs.
M
Other
Proximal & distal weakness, hypotonia. Chest-right mild Poland anomaly. Eczema. Family history: mother with history of joint hypermobility, osteoarthritis, mitral valave prolapse, severe migraines, & severe breast asymmetry (mother was source of 2p16.3 deletion, 15q26.3 duplication, and 17p11.2 duplication).
Normal
37205282
37722995
517714
GRCh38
Duplication
No
costa_21_ASD_discovery_cases-caseP44
NA
M
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: macrocrania, hypotonia, myalgia, facial dysmorphisms.
37272809
37478096
205288
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13154_1713
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38056651
38221616
164966
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14161_2640
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
34686739
34996933
310195
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14161_2640
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
35357072
35700496
343425
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14165_2700
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37285423
37588358
302936
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14189_3130
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37184262
37391512
207251
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14365_4790
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37345168
37437746
92579
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18158_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37285423
37588358
302936
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3267_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37239138
37313896
74759
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3518_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
36278788
36392332
113545
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3604_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37373912
37430263
56352
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5336_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
36278788
36392332
113545
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU075703
Autism
37465972
37772804
306833
Unknown
Duplication
No
gai_11_ASD_replication_cases-AU075704
Autism
37400450
37772804
372355
Unknown
Duplication
No
girirajan_13a_ASD_discovery_cases-AU008003
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
37274141
37534141
260001
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-AU2814301
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
37294141
37584141
290001
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001596
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38397291
38433930
36640
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002746
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
36886533
37331810
445278
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004217
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
36906275
37606265
699991
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005145
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37157004
37571897
414894
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005344
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
36834830
36906334
71505
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13336.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
37238857
37314330
75474
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13377.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
36961483
37752573
791091
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13829.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
37247617
37605238
357622
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14463.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
34020582
34043125
22544
GRCh38
Deletion
Yes
leite_22_DD/ID_discovery_cases-case038
9 yrs.
M
Developmental delay
Global developmental delay, multiple stigmas
37188309
37387365
199057
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU3501302
N/A
N/A
ASD
36248530
37736945
1488416
GRCh38
Duplication
No
mahjani_22_OCD/CTD_discovery_cases-case73
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
37034782
37715965
681184
GRCh38
Duplication
No
marcou_17_DD/ID_discovery_cases-case1
12 yrs.
F
Global developmental delay/intellectual disability
Birth/neonatal history: born to a 36-year-old, gravida three, para three mother via natural conception; pregnancy not complicated by maternal illness or exposure to known teratogens, although the mother did take birth control pills during the first trimester and an antidepressant medication throughout gestation; birth at 36-1/2 weeks gestation via spontaneous vaginal delivery; birth weight of 2814 g (5th %ile), length of 45.08 cm (5th %ile), and head circumference of 32 cm (25th %ile); postnatal complications included need for oxygen and resuscitation for first 5 minutes of life; no additional postnatal complications observed prior to release from hospital; normal newborn screening; weak cry and weak suck as an infant, resulting in feeding difficulties and failure to thrive (weight <5th %ile); microcephaly (head circumference fell from 25th %ile to <5th %ile), hypotonia, and global developmental delay noted at this time. Developmental milestones: global developmental delay; rolling from front to back at 7 months, unassisted sitting between 9-11 months, crawling at 1 year, began pulling to stand at 14 months, independent walking at 22 months, climbing stairs between 4-5 years; did not use words until 3-4 years, did not speak in complete sentences until 8 years; no developmental regression. Lanaguge and communication evaluation: severe language delay, receives speech therapy twice a week. Motor and musculoskeletal evaluation: hypotonia; hypermobility in the small joints of the hand, mild pectus excavatum, evidence of scoliosis, arachnodactyly, long and thin feet, long and slender figners, clinodactyly of both fifth fingers, mild pes planus, piezogenic apules. EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: microcephaly, mild dolichocephaly, mild malar hypoplasia, mild retrognathia, fine hair, posterior hair whorl, prominent forehead, bilateral epicanthal folds, long palpebral fissures, deep-set eyes, low-set ears, petite ears, long ears with over-folding of the superior helix and with no tags or pits, broad nasal tip, depressed nasal bridge, small mouth, slight downturned corners of the mouth, widely spaced teeth. Growth parameters: height of 148.3 cm (19th %ile), weight of 36.1 kg (15th %ile), and head circumference of 50 cm (<3rd %ile) at 12 years. Family history: third child of parents; family history on both the maternal and paternal side is unremarkable with no documentation of any congenital anomalies or developmental delay; 48-year-old mother, 51-year-old father, and 23-year-old sister are healthy, 28-year-old brother was treated for testicular cancer at 21 years of age and a recurrence at 26 years of age.
Moderate-severe intellectual disability; case currently in 6th grade but performs work at 1st grade level.
37601368
37628218
26851
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-NA0076-000
NA
M
ASD
NA
NA
37374022
37742975
368954
GRCh38
Duplication
Yes
poultney_13_ASD_discovery_cases-case00HI1581A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU075704; NDAR ID NDAR_INVUN632MCA)
37379366
37727047
347682
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case98HI0605A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU008003; NDAR ID NDAR_INVVZ091NZN)
37291898
37516592
224695
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case131240
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
35059076
35110972
51897
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case66349
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
37167038
37411745
244708
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseL051
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
36311911
36429042
117132
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11133.p1
17
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 110; verbal IQ 140
36449450
36462986
13537
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11568.p1
13.5
F
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 28
34389754
34410070
20317
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12096.p1
11.7
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 114
36295995
36319669
23675
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12424.p1
4.2
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 77; verbal IQ, 65
34833276
34839443
6168
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12497.p1
4.6
M
Autism
NA
Full-scale IQ, 55; non-verbal IQ, 63; verbal IQ, 49
35855162
35861166
6005
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12597.p1
6.4
M
Autism
NA
Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
35101076
35104265
3190
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12902.p1
14.3
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 114; verbal IQ, 123
34908957
34915843
6887
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12907.p1
13.8
M
ASD
NA
Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
35855162
35858909
3748
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
34833276
34839443
6168
GRCh38
Deletion
No
sansovic_17_DD/ID/ASD_discovery_cases-case103
5 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Dysmorphism
36520764
37406817
886054
GRCh38
Duplication
No
stamouli_18_ASD/NDD_discovery_cases-family46_Twin_2
N/A
N/A
ASD/NDD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group
35244750
35906132
661383
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case1-0455-003
N/A
M
ASD
N/A
N/A
35022929
35077790
54862
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case218
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
35022929
35073658
50730
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
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
N/A
N/A
Control
No previous psychiatric history
34800246
34979336
179091
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB779111_1007874846
N/A
N/A
Control
No previous psychiatric history
37239138
37313896
74759
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902428_902428
N/A
N/A
Control
No previous psychiatric history
38389666
38422889
33224
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902517_902517
N/A
N/A
Control
No previous psychiatric history
34402047
34691016
288970
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control13336.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
37238857
37314330
75474
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14463.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
34020582
34043125
22544
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27173
Control
37944687
37963417
18731
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28311
Control
34445492
34729665
284174
Unknown
Duplication
sanders_11_ASD_discovery_controls-11928.s1
14.1
M
Control (matched sibling)
NA
NA
36058932
36060592
1661
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12096.s1
9.7
M
Control (matched sibling)
NA
NA
36295995
36319669
23675
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12300.s1
4.8
F
Control (matched sibling)
NA
NA
37912893
37927352
14460
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
34833276
34839443
6168
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
34833276
34840736
7461
GRCh38
Deletion
No
stamouli_18_ASD/NDD_discovery_controls-family46_Twin_1
N/A
N/A
Control
Control is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic subgroup
35244750
35906132
661383
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
akter_23_ASD/ADHD/DD/ID_discovery_cases-case122
Unknown
CPLANE1,RPS4XP6,KRT18P31,NIPBL-DT,RN7SL37P,RBISP2,NIPBL,OFD1P17
ching_10_ASD/DD/MR_discovery_cases-case11
Paternal
Unknown
Unknown
OFD1P17,RN7SL37P,RNU7-75P,KCTD9P5,RNU6-1190P,RNU6-484P,CPLANE1,NUP155,WDR70
costa_21_ASD_discovery_cases-caseP44
Unknown
WDR70,RNU7-75P,NUP155
engchuan_15_ASD_discovery_cases-case13154_1713
Unknown
LINC02119,LINC02107
engchuan_15_ASD_discovery_cases-case14161_2640
Unknown
RPL21P54,BRIX1,RAD1,DNAJC21,RAI14,TTC23L
engchuan_15_ASD_discovery_cases-case14161_2640
Unknown
RNU7-130P,SPEF2
engchuan_15_ASD_discovery_cases-case14165_2700
Unknown
RNU7-75P,KCTD9P5,NUP155,WDR70
engchuan_15_ASD_discovery_cases-case14189_3130
Unknown
OFD1P17,RN7SL37P,RNU7-75P,CPLANE1,NUP155,WDR70
engchuan_15_ASD_discovery_cases-case14365_4790
Unknown
NUP155,WDR70
engchuan_15_ASD_discovery_cases-case18158_301
Unknown
RNU7-75P,KCTD9P5,NUP155,WDR70
engchuan_15_ASD_discovery_cases-case3267_3
Unknown
RN7SL37P,CPLANE1,NUP155
engchuan_15_ASD_discovery_cases-case3518_3
Unknown
RANBP3L
engchuan_15_ASD_discovery_cases-case3604_3
Unknown
WDR70
engchuan_15_ASD_discovery_cases-case5336_3
Unknown
RANBP3L
gai_11_ASD_replication_cases-AU075703
Inherited
WDR70
gai_11_ASD_replication_cases-AU075704
Inherited
NUP155, WDR70
girirajan_13a_ASD_discovery_cases-AU008003
Unknown
Multiplex
Unknown
RNU7-75P,KCTD9P5,NUP155,WDR70
girirajan_13a_ASD_discovery_cases-AU2814301
Unknown
Multiplex
Unknown
RNU7-75P,KCTD9P5,NUP155,WDR70
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001596
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EGFLAM-AS2,EGFLAM-AS1,EGFLAM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002746
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPS4XP6,C8orf59P2,OFD1P17,RN7SL37P,RNU7-75P,NIPBL,CPLANE1,NUP155
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004217
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RPS4XP6,C8orf59P2,OFD1P17,RN7SL37P,RNU7-75P,KCTD9P5,NIPBL,CPLANE1,NUP155,WDR70
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005145
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
OFD1P17,RN7SL37P,RNU7-75P,KCTD9P5,CPLANE1,NUP155,WDR70
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005344
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NIPBL-DT,KRT18P31,NIPBL
krumm_15_ASD_discovery_cases-case13336.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RN7SL37P,CPLANE1,NUP155
krumm_15_ASD_discovery_cases-case13377.p1
1M-Duov3
Paternal
Simplex
Segregated
RPS4XP6,C8orf59P2,OFD1P17,RN7SL37P,RNU7-75P,KCTD9P5,RNU6-1190P,RNU6-484P,NIPBL,CPLANE1,NUP155,WDR70
krumm_15_ASD_discovery_cases-case13829.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
RNU7-75P,KCTD9P5,CPLANE1,NUP155,WDR70
krumm_15_ASD_discovery_cases-case14463.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
C1QTNF3,C1QTNF3-AMACR
leite_22_DD/ID_discovery_cases-case038
Paternal
WDR70,CPLANE1,RNU7-75P,RN7SL37P,NUP155,OFD1P17
leppa_16_ASD_discovery_cases-AU3501302
De novo
Unknown
Possibly segregated
RNA5SP181,NIPBL-DT,KRT18P31,RPS4XP6,C8orf59P2,OFD1P17,RN7SL37P,RNU7-75P,KCTD9P5,RNU6-1190P,RNU6-484P,RANBP3L,SLC1A3,NIPBL,CPLANE1,NUP155,WDR70
mahjani_22_OCD/CTD_discovery_cases-case73
Unknown
WDR70,CPLANE1,RPS4XP6,RNU7-75P,KCTD9P5,RN7SL37P,RNU6-484P,RNU6-1190P,RBISP2,NUP155,NIPBL,OFD1P17
marcou_17_DD/ID_discovery_cases-case1
Unknown
Simplex
Unknown
RNU6-1190P,WDR70
marshall_08_ASD_discovery_cases-NA0076-000
qPCR, qmPCR
Unknown
NA
NA
KCTD9P5,RNU6-1190P,RNU6-484P,WDR70
poultney_13_ASD_discovery_cases-case00HI1581A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
KCTD9P5,RNU6-1190P,RNU6-484P,WDR70
poultney_13_ASD_discovery_cases-case98HI0605A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
RNU7-75P,KCTD9P5,NUP155,WDR70
prasad_12_ASD_discovery_cases-case131240
Unknown
Unknown
Unknown
PRLR,AGXT2
prasad_12_ASD_discovery_cases-case66349
Unknown
Unknown
Unknown
NUP155,C5orf42
prasad_12_ASD_discovery_cases-caseL051
Unknown
Unknown
Unknown
RANBP3L
sanders_11_ASD_discovery_cases-11133.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11568.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12096.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RANBP3L
sanders_11_ASD_discovery_cases-12424.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TTC23L
sanders_11_ASD_discovery_cases-12497.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IL7R
sanders_11_ASD_discovery_cases-12597.p1
Unknown
Simplex (quad-proband matched)
Not segregated
PRLR
sanders_11_ASD_discovery_cases-12902.p1
Unknown
Simplex (quad-proband matched)
Not segregated
BRIX1,RAD1
sanders_11_ASD_discovery_cases-12907.p1
Unknown
Simplex (quad-proband matched)
Not segregated
IL7R
sanders_11_ASD_discovery_cases-13296.p1
Unknown
Simplex (quad-proband matched)
Not segregated
TTC23L
sansovic_17_DD/ID/ASD_discovery_cases-case103
De novo
NIPBL-DT,KRT18P31,RPS4XP6,C8orf59P2,OFD1P17,RN7SL37P,RNU7-75P,SLC1A3,NIPBL,CPLANE1,NUP155,WDR70
stamouli_18_ASD/NDD_discovery_cases-family46_Twin_2
Unknown
Multiplex
Not segregated (CNV also present in unaffected twin)
RNU7-130P,IL7R,CAPSL,SPEF2
walker_13_ASD_discovery_cases-case1-0455-003
Unknown
Multiplex
Unknown
AGXT2,PRLR
yin_16_ASD_discovery_cases-case218
Unknown
Unknown
Unknown
AGXT2,PRLR
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB333151_1007853867
Unknown
RPL21P54,BRIX1,RAD1,DNAJC21,RAI14,TTC23L
engchuan_15_ASD_discovery_controls-controlB779111_1007874846
Unknown
RN7SL37P,CPLANE1,NUP155
engchuan_15_ASD_discovery_controls-controlHABC_902428_902428
Unknown
EGFLAM-AS2,EGFLAM
engchuan_15_ASD_discovery_controls-controlHABC_902517_902517
Unknown
RAI14
krumm_15_ASD_discovery_controls-control13336.s1
1M-Duov3
Paternal
RN7SL37P,CPLANE1,NUP155
krumm_15_ASD_discovery_controls-control14463.s1
Omni2.5-4v1
Paternal
C1QTNF3,C1QTNF3-AMACR
nord_11_ASD_discovery_controls-04C27173
0 genes
nord_11_ASD_discovery_controls-04C28311
RAI14
sanders_11_ASD_discovery_controls-11928.s1
Both parents
Simplex (quad)
NA
UGT3A2
sanders_11_ASD_discovery_controls-12096.s1
Maternal
Simplex (quad)
NA
RANBP3L
sanders_11_ASD_discovery_controls-12300.s1
Paternal
Simplex (quad)
NA
LINC02117,GDNF-AS1
sanders_11_ASD_discovery_controls-12424.s1
Unknown
Simplex (quad)
NA
TTC23L
sanders_11_ASD_discovery_controls-13183.s1
Unknown
Simplex (quad)
NA
TTC23L
stamouli_18_ASD/NDD_discovery_controls-family46_Twin_1
Unknown
Simplex
RNU7-130P,IL7R,CAPSL,SPEF2
No Animal Model Data Available