11p12CNV Type: Deletion-Duplication
Largest CNV size: 262938 bp
Statistics Box:
Number of Reports: 15
Number of Reports: 15
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Deletion
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion-Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
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
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
202712
1
0
1
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
121379
1
0
1
brandler_18_ASD_discovery_cases
Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
880
REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
N/A
N/A
11948
1
1
2
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
722384
12
12
24
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
107806
1
0
1
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
128774
1
0
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
207739
2
1
3
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
1515521
0
1
1
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
208000
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
262938
2
0
2
mulle_13_SCZ_discovery_cases_1
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
554
Diagnosis of schizophrenia based on meeting DSM-IV citeria
N/A
N/A
3389698
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
170689
1
1
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
200640
5
1
6
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
175323
28
12
40
servetti_21_ASD/ID/EP_discovery_cases
Individuals with complex neurodevelopmental disorder (NDD) phenotypes born to non-consanguineous parents, including one affected sib pair.
12
All 12 cases presented with varying degrees of intellectual disability (ID); four cases also presented with epilepsy, while three cases also presented with autism spectrum disorder (ASD).
NA
83.33% Male
391735
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
398418
5
1
6
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
121379
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
300555
8
22
30
itsara_10_ASD_discovery_controls_2
Asthmatic children from parent-child trios. Diagnosis given by pediatric allergist at allergy referral clinic of Hospital Infantil de Mexico, Mexico City; genotyping performed at Univ. of Washington Dept. of Genome Sciences
386
Children with mild-to-moderate asthma
Range, 5-17 yrs.
33141
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
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
59901
0
4
4
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
mulle_13_SCZ_discovery_controls_1
Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
1014
Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
N/A
N/A
N/A
N/A
N/A
N/A
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)
200640
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.
173685
17
10
27
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
398418
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
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
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
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
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
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
Solid phase hybridization
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
servetti_21_ASD/ID/EP_discovery_cases
Italy
aCGH
Agilent Human Genome CGH 180K
NA
Agilent CytoGenomics
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
Long-range PCR, qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bacchelli_20_ASD_discovery_controls
Italian
Solid phase hybridization
Illumina Infinium PsychArray
PennCNV, QuantiSNP, CNVPartition
None
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
itsara_10_ASD_discovery_controls_2
Hispanic/Mexican
Solid phase hybridization
Illumina HumanHap550 SNP array
HMM
Illumina GenomeStudio
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
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
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
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-case179
4.92 yrs.
F
ASD and developmental delay
Autism, finger movements, corner eye, flat feet (elder maternal uncle), gets excited if doesn't get anything wanted, impaired language development, poor social communication skills, stereotyped hand movement, restrictive and repetitive behaviour. Growth parameters: height 1.05 m, weight 14 kg, head circumference 50 cm. Family history: no data on familial consanguinity.
40455218
40657929
202712
GRCh38
Deletion
No
bacchelli_20_ASD_discovery_cases-caseAB62
N/A
F
ASD
Diagnosis of ASD (based on ADI-R, ADOS, other assessments, and/or DSM criteria)
40595371
40716749
121379
GRCh38
Deletion
No
brandler_18_ASD_discovery_cases-caseMT_88.3
N/A
M
ASD
Case from REACH cohort
36484987
36487126
2140
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseSSC07684
N/A
M
ASD
Case from SSC cohort
38993049
39004997
11949
GRCh38
Duplication
Yes
engchuan_15_ASD_discovery_cases-case13117_1343
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38292703
38339288
46586
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14008_170
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14032_600
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42012154
42043124
30971
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14051_880
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14208_3350
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40326754
40725172
398419
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case16058_1571037001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case18082_301
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40342064
40689889
347826
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3034_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3276_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42265498
42300968
35471
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3456_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41116857
41180419
63563
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3461_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4146_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38223311
38328058
104748
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4260_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
41846104
42568488
722385
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4260_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39139169
39212539
73371
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4524_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38283570
38339288
55719
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5092_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5130_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
40401542
40572230
170689
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5133_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42265498
42300968
35471
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5254_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5524_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6122_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
42882943
42951703
68761
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6265_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
38300656
38339288
38633
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8509_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case9759_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
37747707
37815386
67680
GRCh38
Duplication
No
gai_11_ASD_discovery_cases-AU1791303
Autism
41677384
41785189
107806
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU0881301
Autism
39882026
40010799
128774
Unknown
Deletion
No
han_22_ASD/DD/ID_discovery_cases-case16D1408
9 mos. 11 days
F
Developmental delay
40688712
40777485
88774
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseC50
4 yrs. 10 mos.
M
ASD
41093128
41151221
58094
GRCh38
Deletion
No
han_22_ASD/DD/ID_discovery_cases-caseY84
3 yrs. 11 mos.
M
ASD
40725038
40932776
207739
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005373
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39264515
40780036
1515522
GRCh38
Duplication
Yes
lesca_12_EP_discovery_cases-caseEC65
NA
F
Epilepsy
Phenotype: i-CSWSS. Seizure Characteristics: ND. Autistic features: ND. ADHD features: ND. Other features: None.
Initial cognitive development: Delayed. Cognitive regression: Yes.
38008732
38216398
207667
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-MM0272-003
NA
M
ASD
Mild language delay, severe speech unintelligibility, moderate repetitive behavior, seizures
IQ/LOF 74
40307674
40570612
262939
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0167-003
NA
F
ASD
RL/EL average/mild delay, moderate speech apraxia
IQ/LOF 62
40439428
40632274
192847
GRCh38
Deletion
Yes
mulle_13_SCZ_discovery_cases_1-caseAJ_8122_9
N/A
N/A
Schizophrenia
N/A
N/A
36830359
40220057
3389699
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5130_3
NA
M
Autism
Oxygen deprivation at birth, tonic clonic seizures from birth to age 6 m, treated with phenobarbital until age 18 m, seizure free since then; right ptosis, no dysmorphic features
Average IQ
40401542
40572230
170689
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case5524_3
NA
M
ASD
NA
NA
37753777
37815386
61610
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case58449
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
41143262
41159751
16490
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60701L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
40374678
40550352
175675
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case60966-L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
40408359
40608998
200640
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case78391
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
41143262
41159751
16490
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case78699L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
37562857
37601595
38739
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case85274L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
38833519
38927235
93717
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11010.p1
4.1
M
Autism
NA
Full-scale IQ, 65; non-verbal IQ, 68; verbal IQ, 60
42947325
42951703
4379
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11012.p1
8.8
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 80; verbal IQ, 83
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11025.p1
4.6
F
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 92
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11060.p1
6.4
M
Autism
NA
Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ 93
37753777
37815386
61610
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11132.p1
4.3
M
Autism
NA
Full-scale IQ, 47; non-verbal IQ, 49; verbal IQ, 32
37261982
37281088
19107
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11142.p1
7.9
M
Autism
NA
Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
40459275
40595174
135900
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11159.p1
12.9
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 109; verbal IQ, 130
42947325
42951703
4379
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
38275353
38294034
18682
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11305.p1
14.6
M
Autism
NA
Full-scale IQ, 41; non-verbal IQ, 35; verbal IQ, 60
37753777
37810072
56296
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11310.p1
11
M
Autism
NA
Full-scale IQ, 83; non-verbal IQ, 97; verbal IQ, 63
38360122
38379666
19545
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11375.p1
6.2
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 115; verbal IQ, 93
38275353
38318734
43382
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11458.p1
16.4
M
Autism
NA
Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
37753777
37815386
61610
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11485.p1
5.6
M
Autism
NA
Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
42947325
42951703
4379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11523.p1
6.3
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 72
42947325
42951703
4379
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11536.p1
5.8
M
ASD
NA
Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
42947325
42951703
4379
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11564.p1
10.8
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 89; verbal IQ, 106
38436978
38438493
1516
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11611.p1
10.3
F
Autism
NA
Full-scale IQ, 32; non-verbal IQ, 34; verbal IQ, 27
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11620.p1
16.5
M
ASD
NA
Full-scale IQ, 102; non-verbal IQ, 119; verbal IQ, 110
37747707
37810072
62366
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11622.p1
9.3
M
Autism
NA
Full-scale IQ, 97; non-verbal IQ, 92; verbal IQ, 106
37747707
37815386
67680
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11711.p1
5.3
M
Autism
NA
Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11792.p1
10.5
M
Autism
NA
Full-scale IQ, 107; non-verbal IQ, 100; verbal IQ, 119
39402778
39419282
16505
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11855.p1
14.8
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11888.p1
4
M
ASD
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 75
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11897.p1
5.9
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 84; verbal IQ, 67
37747707
37815386
67680
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11931.p1
6.6
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 69; verbal IQ, 51
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11954.p1
5.3
M
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 62; verbal IQ, 79
41078859
41254182
175324
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12014.p1
6.3
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
42043124
42065015
21892
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
38436978
38438493
1516
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12113.p1
4.1
M
Autism
NA
Full-scale IQ, 66; non-verbal IQ, 73; verbal IQ, 69
39402778
39419282
16505
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12225.p1
15.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 89; verbal IQ, 77
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12385.p1
13.6
M
Autism
NA
Full-scale IQ, 56; non-verbal IQ, 55; verbal IQ, 58
42947325
42951703
4379
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12417.p1
4.4
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 96; verbal IQ, 83
42947325
42951703
4379
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12603.p1
11.7
M
Autism
NA
Full-scale IQ, 23; non-verbal IQ, 26; verbal IQ, 20
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12638.p1
9.9
M
Autism
NA
Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
38236547
38286863
50317
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12670.p1
10.5
M
ASD
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12956.p1
5.1
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
38662596
38738045
75450
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13013.p1
8.1
M
Autism
NA
Full-scale IQ, 72; non-verbal IQ, 68; verbal IQ, 86
38436978
38443368
6391
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13016.p1
5.5
M
Aspergers
NA
Full-scale IQ, 98; non-verbal IQ, 102; verbal IQ, 93
39402778
39419282
16505
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
43174802
43177985
3184
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
38436978
38438493
1516
GRCh38
Deletion
No
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC13
NA
M
ASD, intellectual disability, and epilepsy
ASD, epilepsy
Intellectual disability
40281563
40673297
391735
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case2-0272-003
N/A
M
ASD
N/A
N/A
40401542
40572230
170689
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case2-0286-003
N/A
M
ASD
N/A
N/A
42265498
42300968
35471
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case3-0208-000
N/A
M
ASD
N/A
N/A
40489932
40514415
24484
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-14032-600
N/A
M
ASD
N/A
N/A
42012154
42043124
30971
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-14208-3350
N/A
M
ASD
N/A
N/A
40326754
40725172
398419
GRCh38
Duplication
Yes
walker_13_ASD_discovery_cases-case8-3276-003
N/A
M
ASD
Family history: paternal aunt has two affected offspring (neither carries 11p12 deletion)
N/A
42265498
42300968
35471
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bacchelli_20_ASD_discovery_controls-control10437
N/A
M
Control
Control
40595371
40716749
121379
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-control110036011773_
N/A
N/A
Control
No previous psychiatric history
37766306
37823102
56797
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036020352_
N/A
N/A
Control
No previous psychiatric history
37736360
37815386
79027
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-control110036021087_
N/A
N/A
Control
No previous psychiatric history
36868550
37134083
265534
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB215705_0067942636
N/A
N/A
Control
No previous psychiatric history
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB225400_1007852906
N/A
N/A
Control
No previous psychiatric history
38227656
38331750
104095
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB534933_1007874890
N/A
N/A
Control
No previous psychiatric history
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB750388_1007845878
N/A
N/A
Control
No previous psychiatric history
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB810425_0057061028
N/A
N/A
Control
No previous psychiatric history
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB829544_0057060999
N/A
N/A
Control
No previous psychiatric history
37753777
37815386
61610
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB968409_1007873505
N/A
N/A
Control
No previous psychiatric history
36690284
36804068
113785
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
N/A
N/A
Control
No previous psychiatric history
40216629
40517184
300556
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
N/A
N/A
Control
No previous psychiatric history
37739503
37815386
75884
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900104_900104
N/A
N/A
Control
No previous psychiatric history
39903900
40026204
122305
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900114_900114
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900229_900229
N/A
N/A
Control
No previous psychiatric history
42265498
42300968
35471
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900288_900288
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900478_900478
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900520_900520
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900780_900780
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900893_900893
N/A
N/A
Control
No previous psychiatric history
38300656
38339288
38633
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900994_900994
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901041_901041
N/A
N/A
Control
No previous psychiatric history
42983670
43102665
118996
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901220_901220
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902600_902600
N/A
N/A
Control
No previous psychiatric history
42156406
42245116
88711
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902758_902758
N/A
N/A
Control
No previous psychiatric history
40388363
40499337
110975
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902760_902760
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902822_902822
N/A
N/A
Control
No previous psychiatric history
37747707
37815386
67680
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902859_902859
N/A
N/A
Control
No previous psychiatric history
40524079
40564852
40774
GRCh38
Deletion
No
itsara_10_ASD_discovery_controls_2-723
NA
NA
Asthma
NA
NA
38271692
38304833
33142
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1053
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
42924732
42957368
32637
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1646
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
42913353
42973253
59901
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split1921
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
42968875
42973253
4379
Unknown
Duplication
No
kanduri_15_ASD_discovery_controls-control_split545
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
42913353
42973253
59901
Unknown
Duplication
No
sanders_11_ASD_discovery_controls-11010.s1
7.7
M
Control (matched sibling)
NA
NA
42947325
42951703
4379
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11074.s1
7.3
M
Control (matched sibling)
NA
NA
37753777
37815386
61610
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11239.s1
15.1
M
Control (matched sibling)
NA
NA
42947325
42951703
4379
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11298.s1
13.4
M
Control (matched sibling)
NA
NA
41560329
41564693
4365
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11305.s1
18.3
M
Control (matched sibling)
NA
NA
37753777
37815386
61610
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11376.s1
23.8
F
Control (matched sibling)
NA
NA
42947325
42951703
4379
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11455.s1
8.9
F
Control (matched sibling)
NA
NA
38271692
38318734
47043
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11485.s1
10.5
F
Control (matched sibling)
NA
NA
42947325
42951703
4379
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11509.s1
20.3
M
Control (matched sibling)
NA
NA
38283570
38300656
17087
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11564.s1
6.3
F
Control (matched sibling)
NA
NA
38436978
38438493
1516
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11584.s1
13.5
M
Control (matched sibling)
NA
NA
37753777
37815386
61610
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
37747707
37815386
67680
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11798.s1
7.2
F
Control (matched sibling)
NA
NA
37739134
37815386
76253
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11863.s1
8
F
Control (matched sibling)
NA
NA
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11888.s1
9.6
M
Control (matched sibling)
NA
NA
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
38436978
38438493
1516
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11954.s1
6.8
F
Control (matched sibling)
NA
NA
41078859
41252544
173686
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11998.s1
6.8
M
Control (matched sibling)
NA
NA
42789816
42799317
9502
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11999.s1
4.3
F
Control (matched sibling)
NA
NA
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
38436978
38438493
1516
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12227.s1
10.3
M
Control (matched sibling)
NA
NA
41551336
41596391
45056
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12308.s1
9.6
M
Control (matched sibling)
NA
NA
37747707
37815386
67680
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12444.s1
7
M
Control (matched sibling)
NA
NA
39402778
39417778
15001
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12652.s1
4.1
F
Control (matched sibling)
NA
NA
42212830
42217472
4643
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12956.s1
7.4
F
Control (matched sibling)
NA
NA
38693009
38738045
45037
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13023.s1
8.8
M
Control (matched sibling)
NA
NA
41796716
41797309
594
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
38436978
38438493
1516
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-case179
Unknown
LRRC4C
bacchelli_20_ASD_discovery_cases-caseAB62
Paternal
Simplex
LRRC4C
brandler_18_ASD_discovery_cases-caseMT_88.3
PCR or SNP data validation
Paternal
TRAF6
brandler_18_ASD_discovery_cases-caseSSC07684
SNP VCF
De novo
engchuan_15_ASD_discovery_cases-case13117_1343
Unknown
engchuan_15_ASD_discovery_cases-case14008_170
Unknown
engchuan_15_ASD_discovery_cases-case14032_600
Unknown
engchuan_15_ASD_discovery_cases-case14051_880
Unknown
engchuan_15_ASD_discovery_cases-case14208_3350
Unknown
LRRC4C
engchuan_15_ASD_discovery_cases-case16058_1571037001
Unknown
engchuan_15_ASD_discovery_cases-case18082_301
Unknown
LRRC4C
engchuan_15_ASD_discovery_cases-case3034_3
Unknown
engchuan_15_ASD_discovery_cases-case3276_3
Unknown
engchuan_15_ASD_discovery_cases-case3456_3
Unknown
RNU6-365P,LRRC4C
engchuan_15_ASD_discovery_cases-case3461_3
Unknown
engchuan_15_ASD_discovery_cases-case4146_1
Unknown
engchuan_15_ASD_discovery_cases-case4260_1
Unknown
LINC01499
engchuan_15_ASD_discovery_cases-case4260_1
Unknown
engchuan_15_ASD_discovery_cases-case4524_1
Unknown
engchuan_15_ASD_discovery_cases-case5092_4
Unknown
engchuan_15_ASD_discovery_cases-case5130_3
Unknown
LRRC4C
engchuan_15_ASD_discovery_cases-case5133_3
Unknown
engchuan_15_ASD_discovery_cases-case5254_3
Unknown
engchuan_15_ASD_discovery_cases-case5524_3
Unknown
engchuan_15_ASD_discovery_cases-case6122_5
Unknown
engchuan_15_ASD_discovery_cases-case6265_3
Unknown
engchuan_15_ASD_discovery_cases-case8509_202
Unknown
engchuan_15_ASD_discovery_cases-case9759_201
Unknown
gai_11_ASD_discovery_cases-AU1791303
Inherited
0 genes
gai_11_ASD_replication_cases-AU0881301
Inherited
0 genes
han_22_ASD/DD/ID_discovery_cases-case16D1408
Unknown
LRRC4C
han_22_ASD/DD/ID_discovery_cases-caseC50
Unknown
LRRC4C,RNU6-365P
han_22_ASD/DD/ID_discovery_cases-caseY84
Paternal
LRRC4C
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005373
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LRRC4C
lesca_12_EP_discovery_cases-caseEC65
Unknown
Unknown
Unknown
LRRC6P1
marshall_08_ASD_discovery_cases-MM0272-003
qPCR, qmPCR
Maternal
Multiplex
NA
LRRC4C
marshall_08_ASD_discovery_cases-SK0167-003
qPCR, qmPCR
Unknown
Multiplex
NA
LRRC4C
mulle_13_SCZ_discovery_cases_1-caseAJ_8122_9
Solid phase hybridization
Unknown
Unknown
Unknown
RPL7AP56,LRRC6P1,RNU6-99P,LINC01493,LRRC4C
pinto_10_ASD_discovery_cases-case5130_3
Agilent1M
maternal
Multiplex
NA
LRRC4C
pinto_10_ASD_discovery_cases-case5524_3
Agilent1M
Unknown
NA
NA
prasad_12_ASD_discovery_cases-case58449
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60701L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case60966-L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case78391
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case78699L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case85274L
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11010.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11012.p1
Unknown
Simplex (quad-proband matched)
Segregated
LINC01499
sanders_11_ASD_discovery_cases-11025.p1
Unknown
Simplex (trio)
NA
LINC01499
sanders_11_ASD_discovery_cases-11060.p1
Paternal
Simplex (quad-proband unmatched)
Unknown
sanders_11_ASD_discovery_cases-11132.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11142.p1
Maternal
Simplex (quad-proband matched)
Segregated
LRRC4C
sanders_11_ASD_discovery_cases-11159.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11200.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11305.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11310.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11375.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11458.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11485.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11523.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11536.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11564.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11611.p1
Unknown
Simplex (quad-proband unmatched)
Unknown
LINC01499
sanders_11_ASD_discovery_cases-11620.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11622.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11711.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01499
sanders_11_ASD_discovery_cases-11792.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11855.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01499
sanders_11_ASD_discovery_cases-11888.p1
Both parents
Simplex (quad-proband matched)
Not segregated
LINC01499
sanders_11_ASD_discovery_cases-11897.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11931.p1
Both parents
Simplex (trio)
NA
LINC01499
sanders_11_ASD_discovery_cases-11954.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RNU6-365P,LRRC4C
sanders_11_ASD_discovery_cases-12014.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12041.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12113.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12225.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01499
sanders_11_ASD_discovery_cases-12385.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12417.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12603.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01499
sanders_11_ASD_discovery_cases-12638.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12670.p1
Unknown
Simplex (trio)
NA
LINC01499
sanders_11_ASD_discovery_cases-12956.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC01493
sanders_11_ASD_discovery_cases-13013.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-13016.p1
Unknown
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13039.p1
Unknown
Simplex (quad-proband matched)
Not segregated
HNRNPKP3
sanders_11_ASD_discovery_cases-13233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
servetti_21_ASD/ID/EP_discovery_cases-caseIGGAC13
Paternal
LRRC4C
walker_13_ASD_discovery_cases-case2-0272-003
Long-range PCR or qPCR
Maternal
Multiplex
Segregated
LRRC4C
walker_13_ASD_discovery_cases-case2-0286-003
Long-range PCR or qPCR
Paternal
Multiplex
Segregated
walker_13_ASD_discovery_cases-case3-0208-000
Long-range PCR or qPCR
Maternal
Simplex
Segregated
LRRC4C
walker_13_ASD_discovery_cases-case8-14032-600
Long-range PCR or qPCR
Maternal
Simplex
Segregated
walker_13_ASD_discovery_cases-case8-14208-3350
Long-range PCR or qPCR
Paternal
Simplex
Segregated
LRRC4C
walker_13_ASD_discovery_cases-case8-3276-003
Long-range PCR or qPCR
Paternal
Simplex
Not segregated (deletion present in unaffected sibling)
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bacchelli_20_ASD_discovery_controls-control10437
Unknown
LRRC4C
engchuan_15_ASD_discovery_controls-control110036011773_
Unknown
engchuan_15_ASD_discovery_controls-control110036020352_
Unknown
engchuan_15_ASD_discovery_controls-control110036021087_
Unknown
engchuan_15_ASD_discovery_controls-controlB215705_0067942636
Unknown
engchuan_15_ASD_discovery_controls-controlB225400_1007852906
Unknown
engchuan_15_ASD_discovery_controls-controlB534933_1007874890
Unknown
engchuan_15_ASD_discovery_controls-controlB750388_1007845878
Unknown
engchuan_15_ASD_discovery_controls-controlB810425_0057061028
Unknown
engchuan_15_ASD_discovery_controls-controlB829544_0057060999
Unknown
engchuan_15_ASD_discovery_controls-controlB968409_1007873505
Unknown
engchuan_15_ASD_discovery_controls-controlB983717_1007842477
Unknown
LRRC4C
engchuan_15_ASD_discovery_controls-controlHABC_900073_900073
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900104_900104
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900114_900114
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900149_900149
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900229_900229
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900288_900288
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900478_900478
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900520_900520
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900780_900780
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900893_900893
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900994_900994
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901041_901041
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_901220_901220
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902600_902600
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902758_902758
Unknown
LRRC4C
engchuan_15_ASD_discovery_controls-controlHABC_902760_902760
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902822_902822
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902859_902859
Unknown
LRRC4C
itsara_10_ASD_discovery_controls_2-723
De novo
kanduri_15_ASD_discovery_controls-control_split1053
Unknown
Intergenic CNV: nearest genes, LOC100507205(dist=649492),HNRNPKP3(dist=325686)
kanduri_15_ASD_discovery_controls-control_split1646
Unknown
Intergenic CNV: nearest genes, LOC100507205(dist=638113),HNRNPKP3(dist=309801)
kanduri_15_ASD_discovery_controls-control_split1921
Unknown
Intergenic CNV: nearest genes, LOC100507205(dist=693635),HNRNPKP3(dist=309801)
kanduri_15_ASD_discovery_controls-control_split545
Unknown
Intergenic CNV: nearest genes, LOC100507205(dist=638113),HNRNPKP3(dist=309801)
sanders_11_ASD_discovery_controls-11010.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11074.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11239.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11298.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11305.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11376.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11455.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11485.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11509.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11564.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11584.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11622.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11798.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11863.s1
Unknown
Simplex (quad)
NA
LINC01499
sanders_11_ASD_discovery_controls-11888.s1
Both parents
Simplex (quad)
NA
LINC01499
sanders_11_ASD_discovery_controls-11941.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11954.s1
Paternal
Simplex (quad)
NA
RNU6-365P,LRRC4C
sanders_11_ASD_discovery_controls-11998.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11999.s1
Unknown
Simplex (quad)
NA
LINC01499
sanders_11_ASD_discovery_controls-12184.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12227.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12308.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12444.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12652.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12956.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13023.s1
Unknown
Simplex (quad)
NA
LINC01499
sanders_11_ASD_discovery_controls-13233.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available