5q22.2CNV Type: Deletion-Duplication
Largest CNV size: 35885 bp
Statistics Box:
Number of Reports: 14
Number of Reports: 14
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
107120
1
1
2
bacchelli_20_ASD_discovery_cases
Individuals with an ASD diagnosis recruited at the IRCCS Stella Maris Foundation (Pisa, Italy)
128
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
N/A
82.81% Male
35886
0
1
1
bena_13_ASD/DD/ID_discovery_cases
Previously unreported individuals with NRXN1 exonic deletions recruited as part of a multicenter study
25
Diagnosis of ASD in 65% of cases (diagnostic tools N/A). Other recurrent diagnoses: intellectual disability (91%), language delay (81%), seizures (43%), and hypotonia (38%).
Range, 5-59 yrs.
76.0% Male
100000
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
157053
1
0
1
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
85257
2
0
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
259348
2
0
2
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
13798
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
75422
2
3
5
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
32040
0
1
1
o'roak_12_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
122
ASD/autism
NA
NA
795608
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
44697
4
0
4
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
35885
11
2
13
stobbe_13_ASD_discovery_cases
Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
36
Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
Range, 18-45 yrs. (mean 25.3 yrs.)
77.78% Male
100000
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
49824
1
1
2
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
0
0
0
0
brandler_18_ASD_discovery_controls
Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
630
Control
N/A
N/A
45
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
159619
1
2
3
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
1
0
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
13798
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
13798
0
2
2
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
32040
0
1
1
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.
14194
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)
44697
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.
39957
8
2
10
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
49824
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
bacchelli_20_ASD_discovery_cases
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
bena_13_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Agilent 244K, Agilent 105K, Agilent 180K, OGT custom design 180K, Affymetrix 250K NspI, Affymetrix 250K, Affymetrix Cyto-2.7 M, Illumina 12-330K
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
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
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
o'roak_12_ASD_discovery_cases
NA
WES
NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
HMM
mrsFAST aligner
aCGH, Sanger sequencing
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
stobbe_13_ASD_discovery_cases
N/A
aCGH
NimbleGen CGX-3v1.0
ADM-1
NimbleScan 2.5, DNA Analytics 4.0
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
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
brandler_18_ASD_discovery_controls
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
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.
112732641
112839760
107120
GRCh38
Duplication
No
akter_23_ASD/ADHD/DD/ID_discovery_cases-case182
3.33 yrs.
F
Developmental delay and epilepsy
Global developmental delay (poor neck control, can not sit, walk, speech delay), cerebral palsy, epilepsy with onset at 5 months with a history of frequent infantile spasms, flexor spasm, sleeping problem, eating problem (only eats liquid food), restlessness, non-stop crying, drooling. Her elder brother, who was deceased at the age of 8 months after suffering from pneumonia, also had delayed development (his neck was also weak). Anemic during pregnancy. Facial appearance abnormal. Growth parameters: height N/A, weight 12 kg, head circumference 46 cm. Family history: no data on familial consanguinity.
112746558
112780327
33770
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_cases-caseAB40
N/A
M
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
113575468
113611353
35886
GRCh38
Duplication
No
bena_13_ASD/DD/ID_discovery_cases-case23
15 yrs.
M
ASD and intellectual disability
Motor developmental delay, language delay, seizures, dysmorphic features, normal growth, hyperactivity.
Intellectual disability
N/A
N/A
100000
NCBI36
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14295_4160
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
113332927
113489980
157054
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13833.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
113123269
113152707
29439
GRCh38
Deletion
Yes
girirajan_13a_ASD_discovery_cases-14013.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
113019757
113105014
85258
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000950
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
112838409
112934061
95653
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004791
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
112161743
112421091
259349
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11469.p1
N/A
M
ASD
ASD proband from SSC quad family 11469. SRS score of 79.
Full-scale IQ (FSIQ) score of 109.
113579585
113593383
13799
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11469.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113579585
113593383
13799
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12130.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
113579585
113593383
13799
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12676.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113579585
113592178
12594
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13833.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
113122683
113151424
28742
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14013.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
113028933
113104355
75423
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11469.p1
NA
M
ASD
NA
NA
113575459
113607498
32040
GRCh38
Duplication
No
o'roak_12_ASD_discovery_cases-case11469.p1
NA
M
ASD/Autism
No additional clinical info available.
High IQ. Non verbal IQ, 97
113567653
114363261
795609
GRCh38
Duplication
Yes
o'roak_12_ASD_discovery_cases-case12130.p1
NA
F
ASD/Autism
Case also identified with de novo ADNP frameshift mutation. No additional clinical info available.
Low IQ. Non verbal IQ, 55
113578237
113611353
33117
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case141195L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
112671629
112685386
13758
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59269L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
112699032
112724865
25834
Unknown
Deletion
Yes
prasad_12_ASD_discovery_cases-case60536L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
112269428
112314124
44697
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case72296
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
112548119
112556605
8487
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11366.p1
5
M
Autism
NA
Full-scale IQ, 31; non-verbal IQ, 40; verbal IQ, 22
113627593
113646953
19361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11469.p1
15.9
M
Autism
NA
Full-scale IQ, 109; non-verbal IQ, 97; verbal IQ, 128
113580701
113610295
29595
GRCh38
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
112928269
112942284
14016
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11846.p1
15.8
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
112414182
112430265
16084
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
113607123
113616225
9103
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12008.p1
7.3
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 106; verbal IQ, 128
113607123
113616225
9103
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12044.p1
5.6
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
112928269
112942284
14016
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12130.p1
8.4
F
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 55; verbal IQ, 62
113575468
113611353
35886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12184.p1
12.9
F
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 31; verbal IQ, 21
112417104
112435183
18080
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12192.p1
6.9
M
Autism
NA
Full-scale IQ, 127; non-verbal IQ, 130; verbal IQ, 115
113627593
113646953
19361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12403.p1
11.9
M
Autism
NA
Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
113607123
113616225
9103
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12493.p1
15.3
F
ASD
NA
Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
113627593
113646953
19361
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13183.p1
5.8
M
Autism
NA
Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
112401564
112430265
28702
GRCh38
Deletion
No
stobbe_13_ASD_discovery_cases-case14
22 yrs.
M
Autism and intellectual disability
Dolichocephaly, head circumference of 57 cm, prominent ears, narrow face, wide mouth, scoliosis, severe pectus excavatum. Has 30 words. Normal brain MRI. Negative family history. Karyotype: normal. Fragile X testing: normal.
Intellectual disability
112906618
112951857
45240
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case229
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
113181012
113203058
22047
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case230
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
113360870
113410693
49824
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
brandler_18_ASD_discovery_controls-controlSSC02475
N/A
F
Control
Control from SSC cohort
113027676
113027721
46
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB391087_1007840223
N/A
N/A
Control
No previous psychiatric history
113575468
113610295
34828
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
N/A
N/A
Control
No previous psychiatric history
112410088
112479251
69164
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900827_900827
N/A
N/A
Control
No previous psychiatric history
112183321
112342940
159620
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_controls2-control33
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
krumm_13_ASD_discovery_controls-control11469.s1
N/A
F
Control
Unaffected sibling from SSC quad family 11469. SRS score of 49.
113579585
113593383
13799
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control11469.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113579585
113593383
13799
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12676.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
113579585
113592178
12594
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11469.s1
NA
F
Control
NA
NA
113575459
113607498
32040
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27865
Control
112546937
112561130
14194
Unknown
Deletion
sanders_11_ASD_discovery_controls-11366.s1
10.8
M
Control (matched sibling)
NA
NA
113627593
113646953
19361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11469.s1
19.1
F
Control (matched sibling)
NA
NA
113575468
113615425
39958
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11563.s1
9.3
F
Control (matched sibling)
NA
NA
113627593
113646953
19361
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11827.s1
20
F
Control (matched sibling)
NA
NA
113185650
113189368
3719
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12044.s1
8.8
M
Control (matched sibling)
NA
NA
112928269
112942284
14016
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12115.s1
8.5
M
Control (matched sibling)
NA
NA
112928269
112950344
22076
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12130.s1
8.4
M
Control (matched sibling)
NA
NA
113578237
113611353
33117
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12243.s1
13.5
M
Control (matched sibling)
NA
NA
112928269
112942284
14016
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12581.s1
15.7
M
Control (matched sibling)
NA
NA
113223073
113257650
34578
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12638.s1
17.8
F
Control (matched sibling)
NA
NA
112406898
112430265
23368
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
APC,CBX3P3,RNU6-482P
akter_23_ASD/ADHD/DD/ID_discovery_cases-case182
Unknown
APC,CBX3P3,RNU6-482P
bacchelli_20_ASD_discovery_cases-caseAB40
Maternal
Simplex
YTHDC2
bena_13_ASD/DD/ID_discovery_cases-case23
qPCR
Paternal
Unknown
Unknown
MCC
engchuan_15_ASD_discovery_cases-case14295_4160
Unknown
TSSK1B,MCC
girirajan_13a_ASD_discovery_cases-13833.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
MCC
girirajan_13a_ASD_discovery_cases-14013.p1
aCGH (NimbleGen 135K array)
Paternal
Simplex
Unknown
DCP2,MCC
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000950
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
XBP1P1,ZRSR2P1,SRP19,REEP5,APC
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004791
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
EPB41L4A-AS1,EPB41L4A-DT,EPB41L4A
krumm_13_ASD_discovery_cases-case11469.p1
Paternal
Simplex
Not segregated
YTHDC2
krumm_15_ASD_discovery_cases-case11469.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
YTHDC2
krumm_15_ASD_discovery_cases-case12130.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
YTHDC2
krumm_15_ASD_discovery_cases-case12676.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
YTHDC2
krumm_15_ASD_discovery_cases-case13833.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MCC
krumm_15_ASD_discovery_cases-case14013.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
MCC
levy_11_ASD_discovery_cases-11469.p1
Paternal
Simplex
Unknown
YTHDC2
o'roak_12_ASD_discovery_cases-case11469.p1
aCGH, Sanger sequencing
Paternal
Simplex (quad)
Unknown
RN7SKP89,YTHDC2,KCNN2
o'roak_12_ASD_discovery_cases-case12130.p1
aCGH, Sanger sequencing
Maternal
Simplex (quad)
Unknown
YTHDC2
prasad_12_ASD_discovery_cases-case141195L
Unknown
Unknown
Unknown
MCC
prasad_12_ASD_discovery_cases-case59269L
qPCR
Maternal
Unknown
Unknown
MCC
prasad_12_ASD_discovery_cases-case60536L
Unknown
Unknown
Unknown
REEP5
prasad_12_ASD_discovery_cases-case72296
Unknown
Unknown
Unknown
MCC
sanders_11_ASD_discovery_cases-11366.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11469.p1
Paternal
Simplex (quad-proband matched)
Not segregated
YTHDC2
sanders_11_ASD_discovery_cases-11659.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11846.p1
Both parents
Simplex (trio)
NA
EPB41L4A-DT,EPB41L4A
sanders_11_ASD_discovery_cases-12003.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12008.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12044.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12130.p1
Maternal
Simplex (quad-proband matched)
Not segregated
YTHDC2
sanders_11_ASD_discovery_cases-12184.p1
Unknown
Simplex (quad-proband matched)
Segregated
EPB41L4A-DT,EPB41L4A
sanders_11_ASD_discovery_cases-12192.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12403.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12493.p1
Maternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-13183.p1
Unknown
Simplex (quad-proband matched)
Not segregated
EPB41L4A-DT,EPB41L4A
stobbe_13_ASD_discovery_cases-case14
Unknown
Unknown (possible simplex)
Unknown
REEP5
yin_16_ASD_discovery_cases-case229
Unknown
Unknown
Unknown
MCC
yin_16_ASD_discovery_cases-case230
Unknown
Unknown
Unknown
MCC
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC02475
Not available
Paternal
MCC
engchuan_15_ASD_discovery_controls-controlB391087_1007840223
Unknown
YTHDC2
engchuan_15_ASD_discovery_controls-controlB611425_1007873622
Unknown
EPB41L4A-DT,HMGB3P16,EPB41L4A
engchuan_15_ASD_discovery_controls-controlHABC_900827_900827
Unknown
EPB41L4A
girirajan_13a_ASD_discovery_controls2-control33
Unknown
MCC
krumm_13_ASD_discovery_controls-control11469.s1
Paternal
Simplex
YTHDC2
krumm_15_ASD_discovery_controls-control11469.s1
Illumina 1M
Paternal
YTHDC2
krumm_15_ASD_discovery_controls-control12676.s1
Illumina 1MDuo
Maternal
YTHDC2
levy_11_ASD_discovery_controls-11469.s1
Paternal
Simplex
NA
YTHDC2
nord_11_ASD_discovery_controls-04C27865
MCC
sanders_11_ASD_discovery_controls-11366.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11469.s1
Paternal
Simplex (quad)
NA
YTHDC2
sanders_11_ASD_discovery_controls-11563.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11827.s1
Both parents
Simplex (quad)
NA
MCC
sanders_11_ASD_discovery_controls-12044.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12115.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12130.s1
Maternal
Simplex (quad)
NA
YTHDC2
sanders_11_ASD_discovery_controls-12243.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12581.s1
Maternal
Simplex (quad)
NA
MCC
sanders_11_ASD_discovery_controls-12638.s1
Unknown
Simplex (quad)
NA
EPB41L4A-DT,EPB41L4A
No Animal Model Data Available