6q24.1CNV Type: Deletion-Duplication
Largest CNV size: 1596441 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
Craniofacial dysmorphism and developmental disorders among children with chromosomal microdeletions and duplications of unknown significance.
Duplication
Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
220000
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
353823
13
2
15
gai_11_ASD_discovery_cases
Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
631
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
114584
0
1
1
gannon_11_ASD/DD_discovery_cases
Children seen from 2007 to 2010 at Univ. of South Alabama Autism Diagnostic Clinic
187
Autism spectrum disorder (ASD; diagnosis made using DSM-IV criteria & AODS) and/or global developmental delay; cases evaluated for craniofacial dysmorphism
Mean age, ~44 mos.
~82% Male
312000
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
808033
0
2
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
3256
2
0
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
3256
1
0
1
leblond_12_ASD_discovery_cases
ASD cases recruited by the PARIS (Paris Autism Research International Sibpair) study at specialized centers disposed in France, Sweden, Germany, Finland, and the UK.
260
171 cases with autism, 20 cases with atypical autism, 69 cases with Asperger syndrome (ADOS and either ADI-R or DISCO-10 used for diagnosis). 79 cases with IQ>70, 133 cases with IQ<70, 48 cases with unknown IQ.
74.6% Male
130931
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
90000
1
0
1
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
297510
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
343357
2
1
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
1596441
14
6
20
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
116097
1
0
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
140567
15
1
16
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
271534
1
0
1
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
3256
2
0
2
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
3256
1
0
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.
18764
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)
343357
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.
1582390
7
2
9
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
116097
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gannon_11_ASD/DD_discovery_cases
Gulf Coast of Alabama, Mississippi, & Florida
aCGH
Genome-wide oligo array with 44K platform
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_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)
leblond_12_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human 1M-Dup BeadChip
QuantiSNP, PennCNV
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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)
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
bremer_11_ASD_discovery_cases-case29
8
M
ASD
Non-syndromic ASD, broad neuropsychiatric pehnotype familial case
MR (IQ<70)
141573621
141797340
223720
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case13039_485
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140459466
140535633
76168
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13064_763
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140213537
140329455
115919
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14184_3020
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140617025
140659433
42409
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14197_3210
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140543421
140581682
38262
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2302_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140519105
140659433
140329
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3018_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
141752887
141808872
55986
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3076_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140450992
140495186
44195
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3204_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140617025
140905933
288909
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4050_100
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140160617
140252389
91773
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4408_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140271550
140315494
43945
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5049_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140191030
140544853
353824
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5072_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140652430
140742098
89669
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5338_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140519105
140816614
297510
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6325_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140174011
140304941
130931
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8484_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
140263247
140317325
54079
GRCh38
Deletion
No
gai_11_ASD_discovery_cases-AU1614301
Autism
139885480
140000063
114584
Unknown
Duplication
No
gannon_11_ASD/DD_discovery_cases-patient48
Developmental delay
Marked dysmorphism (Ptosis; large, low-set ears; and thin upper lip)
IQ70
NA
NA
312000
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003927
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
140828962
141361366
532405
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005399
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
140736189
141544222
808034
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case13183.p1
N/A
M
ASD
ASD proband from SSC quad family 13183. SRS score of 90.
Full-scale IQ (FSIQ) score of 60.
142075647
142078903
3257
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_cases-case13513.p1
N/A
M
ASD
ASD proband from SSC quad family 13513. SRS score of 67.
Full-scale IQ (FSIQ) score of 88.
138885505
138885830
326
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case13183.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
142075647
142078903
3257
GRCh38
Deletion
Yes
leblond_12_ASD_discovery_cases-AUGB038_3
11.05 yrs.
M
Autism
ADI-R domain scores (at 11 yrs.): social, 24; communication, 23; behavior, 6. Birth/neonatal history: normal pregnancy and delivery, at term; height 48 cm, weight 2500 g, HC 31 cm; Apgar scores of 7 and 10; no mention of signs of hypotonia in first year. Developmental milestones: apparently normal motor acquisition, severe speech delay; age of sitting, 6 months; age of walking, 18 months; age of first words, 48 months; age of first sentences, 78 months; no regression during development. Language and communication evaluation: expressive language limited to restrictive sentences, mainly dyssyntaxic. Neurological evaluation: normal neurological exam. Epilepsy/seizures: none. EEG: no significant epileptic event reported. Brain imaging: ND. Other exams: karyotype, fragile X, and metabolic screening normal. Other comorbid conditions: inguinal hernia, operated at 2 months of age; hypermetropia and astigmatism. Dysmorphic features: prominent chin, no other dysmorphic features. Family history: non-consanguineous parents, no relevant personal and familial history of psychiatric or medical illness.
Composite score on Kaufman Assessment Battery for Children/K-ABC (age at evaluation, 11.05 years) of 40 (moderate ID)
140174011
140304941
130931
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown184
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
142080828
142169637
88810
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5072_3
NA
M
ASD
No epilepsy, no dysmorphic features
Average IQ
140652430
140742098
89669
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5338_3
NA
M
ASD
NA
NA
140519105
140816614
297510
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case47010
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
140561907
140905263
343357
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case59641L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
139638265
139651447
13183
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case62249L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
141013397
141104460
91064
Unknown
Duplication
No
sanders_11_ASD_discovery_cases-11055.p1
12.2
M
Autism
NA
Full-scale IQ, 28; non-verbal IQ, 32; verbal IQ, 19
139031663
139076322
44660
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11205.p1
7.9
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 61
139961988
141558429
1596442
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11367.p1
7.6
M
Aspergers
NA
Full-scale IQ, 115; non-verbal IQ, 119; verbal IQ, 119
140680283
140683922
3640
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11415.p1
11.6
M
ASD
NA
Full-scale IQ, 80; non-verbal IQ, 86; verbal IQ, 76
140473294
140528565
55272
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11436.p1
4.8
M
Autism
NA
Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 109
140672768
140720192
47425
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11504.p1
8.2
M
Autism
NA
Full-scale IQ, 112; non-verbal IQ, 108; verbal IQ, 119
142055314
142074199
18886
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11541.p1
10.3
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 100; verbal IQ, 108
140604363
140720192
115830
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11722.p1
11.8
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 99; verbal IQ, 92
140737490
141565559
828070
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11843.p1
14.3
F
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
141095029
141129292
34264
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12003.p1
4.3
M
ASD
NA
Full-scale IQ, 115; non-verbal IQ, 120; verbal IQ, 103
140487667
140505888
18222
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12056.p1
11
M
Autism
NA
Full-scale IQ, 103; non-verbal IQ, 92; verbal IQ, 124
139642381
139725492
83112
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
142452367
142496252
43886
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12448.p1
10.5
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 116
141822163
141927618
105456
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12451.p1
9.6
M
ASD
NA
Full-scale IQ, 75; non-verbal IQ, 77; verbal IQ, 77
140441115
140474498
33384
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12469.p1
10.7
M
Aspergers
NA
Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151
141375609
141381786
6178
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12743.p1
10.1
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 114; verbal IQ, 108
140672768
140689451
16684
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12759.p1
8.8
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 114; verbal IQ, 89
142220122
142239170
19049
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12832.p1
6.3
F
Autism
NA
Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
140689451
140704896
15446
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12976.p1
4.9
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 85; verbal IQ, 82
141853825
141898080
44256
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
141984929
142134594
149666
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case250
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
140133897
140249993
116097
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
engchuan_15_ASD_discovery_controls-control110036019628_
N/A
N/A
Control
No previous psychiatric history
141808872
141885053
76182
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB253250_1007841374
N/A
N/A
Control
No previous psychiatric history
140434665
140495186
60522
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB289689_1007854738
N/A
N/A
Control
No previous psychiatric history
140505888
140590252
84365
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
N/A
N/A
Control
No previous psychiatric history
140505888
140590252
84365
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB474177_1007872173
N/A
N/A
Control
No previous psychiatric history
140434665
140495186
60522
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB740471_1007853550
N/A
N/A
Control
No previous psychiatric history
140450992
140535633
84642
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB854263_1007853990
N/A
N/A
Control
No previous psychiatric history
140213537
140329455
115919
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB876806_1007852537
N/A
N/A
Control
No previous psychiatric history
140326192
140387522
61331
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900319_900319
N/A
N/A
Control
No previous psychiatric history
140543421
140581682
38262
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900404_900404
N/A
N/A
Control
No previous psychiatric history
140441115
140581682
140568
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900553_900553
N/A
N/A
Control
No previous psychiatric history
140473294
140528565
55272
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900769_900769
N/A
N/A
Control
No previous psychiatric history
140473294
140528565
55272
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
N/A
N/A
Control
No previous psychiatric history
140543421
140581682
38262
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
N/A
N/A
Control
No previous psychiatric history
140473294
140535633
62340
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902636_902636
N/A
N/A
Control
No previous psychiatric history
140459466
140535633
76168
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902655_902655
N/A
N/A
Control
No previous psychiatric history
140213537
140328587
115051
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1532
N/A
N/A
Control
Control 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
140911389
141182922
271534
Unknown
Deletion
No
krumm_13_ASD_discovery_controls-control13183.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13183. SRS score of 42.
142075647
142078903
3257
GRCh38
Deletion
No (not tested)
krumm_13_ASD_discovery_controls-control13513.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13513. SRS score of 36.
138885505
138885830
326
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control13183.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
142075647
142078903
3257
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27269
Control
142418232
142436995
18764
Unknown
Deletion
sanders_11_ASD_discovery_controls-11086.s1
9.3
M
Control (matched sibling)
NA
NA
142063866
142098817
34952
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11205.s1
4.8
F
Control (matched sibling)
NA
NA
139961988
141544378
1582391
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11504.s1
5.8
M
Control (matched sibling)
NA
NA
142055314
142074199
18886
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11722.s1
9.8
M
Control (matched sibling)
NA
NA
140737490
141558429
820940
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12219.s1
11.4
F
Control (matched sibling)
NA
NA
139499821
139501190
1370
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12451.s1
12.3
M
Control (matched sibling)
NA
NA
140441115
140474498
33384
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12759.s1
5.8
F
Control (matched sibling)
NA
NA
142220122
142239170
19049
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12832.s1
4.5
F
Control (matched sibling)
NA
NA
140689451
140704896
15446
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13183.s1
10.8
F
Control (matched sibling)
NA
NA
141984929
142139126
154198
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bremer_11_ASD_discovery_cases-case29
MLPA, FISH
Paternal
NA
NA
RPS3AP23
engchuan_15_ASD_discovery_cases-case13039_485
Unknown
engchuan_15_ASD_discovery_cases-case13064_763
Unknown
engchuan_15_ASD_discovery_cases-case14184_3020
Unknown
engchuan_15_ASD_discovery_cases-case14197_3210
Unknown
engchuan_15_ASD_discovery_cases-case2302_1
Unknown
engchuan_15_ASD_discovery_cases-case3018_3
Unknown
engchuan_15_ASD_discovery_cases-case3076_4
Unknown
engchuan_15_ASD_discovery_cases-case3204_4
Unknown
MIR4465,RPS3AP24
engchuan_15_ASD_discovery_cases-case4050_100
Unknown
MIR3668
engchuan_15_ASD_discovery_cases-case4408_1
Unknown
engchuan_15_ASD_discovery_cases-case5049_5
Unknown
MIR3668
engchuan_15_ASD_discovery_cases-case5072_3
Unknown
MIR4465
engchuan_15_ASD_discovery_cases-case5338_3
Unknown
MIR4465,RPS3AP24
engchuan_15_ASD_discovery_cases-case6325_3
Unknown
MIR3668
engchuan_15_ASD_discovery_cases-case8484_201
Unknown
gai_11_ASD_discovery_cases-AU1614301
Inherited
0 genes
gannon_11_ASD/DD_discovery_cases-patient48
Unknown
Unknown
NA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003927
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005399
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPS3AP24,RN7SKP106
krumm_13_ASD_discovery_cases-case13183.p1
Maternal
Simplex
Not segregated
NMBR
krumm_13_ASD_discovery_cases-case13513.p1
Maternal
Simplex
Not segregated
ECT2L
krumm_15_ASD_discovery_cases-case13183.p1
Illumina 1MDuo
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
NMBR
leblond_12_ASD_discovery_cases-AUGB038_3
Paternal
Simplex
MIR3668
maini_18_ASD/DD/ID_discovery_cases-case_unknown184
Maternal
Unknown
Unknown
NMBR-AS1,GJE1,NMBR,VTA1
pinto_10_ASD_discovery_cases-case5072_3
Agilent1M
maternal
NA
NA
MIR4465
pinto_10_ASD_discovery_cases-case5338_3
Agilent1M-Maternal
maternal
NA
NA
MIR4465,RPS3AP24
prasad_12_ASD_discovery_cases-case47010
Unknown
Unknown
Unknown
MIR3668
prasad_12_ASD_discovery_cases-case59641L
Unknown
Unknown
Unknown
TXLNB
prasad_12_ASD_discovery_cases-case62249L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11055.p1
Maternal
Simplex (quad-proband matched)
Segregated
ABRACL
sanders_11_ASD_discovery_cases-11205.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNA5SP220,MIR3668,MIR4465,RPS3AP24,RN7SKP106
sanders_11_ASD_discovery_cases-11367.p1
Paternal
Simplex (quad-proband matched)
Not segregated
MIR4465
sanders_11_ASD_discovery_cases-11415.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11436.p1
Unknown
Simplex (quad-proband matched)
Segregated
MIR4465
sanders_11_ASD_discovery_cases-11504.p1
Paternal
Simplex (quad-proband matched)
Not segregated
NMBR
sanders_11_ASD_discovery_cases-11541.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MIR4465
sanders_11_ASD_discovery_cases-11722.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS3AP24,RN7SKP106
sanders_11_ASD_discovery_cases-11843.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12003.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12056.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FILNC1
sanders_11_ASD_discovery_cases-12096.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12448.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12451.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12469.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12743.p1
Both parents
Simplex (quad-proband matched)
Segregated
MIR4465
sanders_11_ASD_discovery_cases-12759.p1
Paternal
Simplex (quad-proband matched)
Not segregated
VTA1
sanders_11_ASD_discovery_cases-12832.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12976.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13183.p1
Maternal
Simplex (quad-proband matched)
Not segregated
NMBR-AS1,GJE1,NMBR
yin_16_ASD_discovery_cases-case250
Unknown
Unknown
Unknown
RNA5SP220,MIR3668
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019628_
Unknown
engchuan_15_ASD_discovery_controls-controlB253250_1007841374
Unknown
engchuan_15_ASD_discovery_controls-controlB289689_1007854738
Unknown
engchuan_15_ASD_discovery_controls-controlB468914_1007854173
Unknown
engchuan_15_ASD_discovery_controls-controlB474177_1007872173
Unknown
engchuan_15_ASD_discovery_controls-controlB740471_1007853550
Unknown
engchuan_15_ASD_discovery_controls-controlB854263_1007853990
Unknown
engchuan_15_ASD_discovery_controls-controlB876806_1007852537
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900319_900319
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900404_900404
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900553_900553
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900769_900769
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901100_901100
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902562_902562
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902636_902636
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902655_902655
Unknown
kanduri_15_ASD_discovery_controls-control_split1532
Unknown
MIR4465 (non-coding RNA, exonic)
krumm_13_ASD_discovery_controls-control13183.s1
Maternal
Simplex
NMBR
krumm_13_ASD_discovery_controls-control13513.s1
Maternal
Simplex
ECT2L
krumm_15_ASD_discovery_controls-control13183.s1
Illumina 1MDuo
Maternal
NMBR
nord_11_ASD_discovery_controls-04C27269
0 genes
sanders_11_ASD_discovery_controls-11086.s1
Paternal
Simplex (quad)
NA
NMBR-AS1,NMBR
sanders_11_ASD_discovery_controls-11205.s1
Paternal
Simplex (quad)
NA
RNA5SP220,MIR3668,MIR4465,RPS3AP24,RN7SKP106
sanders_11_ASD_discovery_controls-11504.s1
Paternal
Simplex (quad)
NA
NMBR
sanders_11_ASD_discovery_controls-11722.s1
Maternal
Simplex (quad)
NA
RPS3AP24,RN7SKP106
sanders_11_ASD_discovery_controls-12219.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12451.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12759.s1
Paternal
Simplex (quad)
NA
VTA1
sanders_11_ASD_discovery_controls-12832.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13183.s1
Maternal
Simplex (quad)
NA
NMBR-AS1,GJE1,NMBR
No Animal Model Data Available