Xp22.2CNV Type: Deletion-Duplication
Largest CNV size: 827046 bp
Statistics Box:
Number of Reports: 21
Number of Reports: 21
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
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...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
annunziata_21_ASD_discovery_cases
Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
209
Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
80.86% Male
494991
0
1
1
asadollahi_14_NDD_discovery_cases
Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
714
Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
N/A
N/A
73000
1
0
1
christian_08_ASD_discovery_cases
Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
397
ASD
58.4% Male
510000
0
1
1
costa_21_ASD_discovery_cases
ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
144
Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
Range, 1-34 yrs. (mean, 7.7 yrs.)
77.08% Male
560541
0
1
1
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
396504
0
2
2
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
908000
0
2
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
827045
1
4
5
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
351
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
170000
1
0
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
974682
1
9
10
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
563022
0
1
1
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
546117
0
1
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
222000
0
2
2
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
465000
0
1
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
827046
1
3
4
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
137533
1
6
7
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
463000
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
31053
9
0
9
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
199615
0
1
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
221000
1
0
1
willemsen_12_DD/ID_discovery_cases
Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
4407
Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
2/3 of cases: age range of 1-18 yrs.
54.5% Male
400000
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
christian_08_ASD_discovery_controls
Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
510000
0
0
0
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
334137
1
11
12
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
359933
0
4
4
leblond_19_ASD_discovery_controls
Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
321
Control
N/A
N/A
12770
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.
520322
0
3
3
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)
137533
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.
450889
15
3
18
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
annunziata_21_ASD_discovery_cases
Italy
aCGH
BlueGnome ISCA180K (Agilent)
BlueGnome Bluefuse
qPCR, FISH
asadollahi_14_NDD_discovery_cases
Predominantly European
Array SNP
Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
HMM
Affymetrix ChAS v.1.0.1
MLPA
christian_08_ASD_discovery_cases
235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
aCGH
RPCI 19K BAC microarray
FISH, microsatellite, qPCR
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
aCGH (Agilent 180K)
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
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
qPCR
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
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
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
willemsen_12_DD/ID_discovery_cases
Netherlands
aCGH, array SNP
Agilent 32K BAC array, Affymetrix 250K
CNAG V2.0 (SNP array)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
christian_08_ASD_discovery_controls
262 Caucasians, 100 African-Americans
aCGH
RPCI 19K BAC microarray
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leblond_19_ASD_discovery_controls
Faroe Islands
Solid phase hybridization, WES
Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
PennCNV, QuantiSNP
XHMM
None
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
annunziata_21_ASD_discovery_cases-caseIB281
NA
M
ASD
Case diagnosed with ASD; no additional clinical information available.
Cognitive profile NA
11674198
12169188
494991
GRCh38
Duplication
Yes
asadollahi_14_NDD_discovery_cases-case62915
N/A
F
NDD
Case with unspecified neurodevelopmental disorder
16603502
16677444
73943
GRCh38
Deletion
Yes
christian_08_ASD_discovery_cases-AU070908
NA
F
ASD
NA
NA
10083097
10594855
511759
GRCh38
Duplication
Yes
costa_21_ASD_discovery_cases-caseP32
NA
M
ASD
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: speech delay, mild hearing loss, irritability, food selectivity.
15946116
16506656
560541
GRCh38
Duplication
Yes
cucinotta_23_ASD_discovery_cases-case208
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
12314992
12395733
80742
GRCh38
Duplication
No
cucinotta_23_ASD_discovery_cases-case77
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
11648319
12044822
396504
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299921
N/A
M
Developmental delay/intellectual disability
13621917
14529977
908061
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300103
N/A
F
Developmental delay/intellectual disability
11240104
11903527
663424
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case1265_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
10003776
10830821
827046
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case14143_2410
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
15693086
15771769
78684
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case5519_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
13865216
14019253
154038
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6239_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
11396457
11490657
94201
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6323_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
14675094
14818077
142984
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260346
N/A
M
Dysmorphic features
Bilateral cleft lip and palate; Ventricular septal defect; Aortic regurgitation; Laryngomalacia; Hypertelorism; Upslanted palpebral fissure; Widows peak
10522948
10523299
352
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case39
3 yrs.
F
Developmental delay/intellectual disability
Hydrocephaly, seizures, facial dysmorphisms. Karyotype: 16qh-, 16qh-.
Developmental delay/intellectual disability
10385846
10555846
170001
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001126
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11038216
11190005
151790
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001741
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11658644
12174505
515862
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002400
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12988378
13963060
974683
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002471
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
13325258
13744416
419159
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002703
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11104475
11121622
17148
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002731
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10759076
11065570
306495
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003870
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12169159
12615106
445948
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004214
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11803888
12169218
365331
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005321
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
11240104
11903527
663424
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005428
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10433348
10502326
68979
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13425.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
15289503
15852524
563022
GRCh38
Duplication
Yes
mahjani_22_OCD/CTD_discovery_cases-case48
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
15311172
15857288
546117
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown224
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)
11114952
11197000
82049
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown225
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)
15561395
15783454
222060
GRCh38
Duplication
No
nava_13_ASD_discovery_cases-Fam1122Proband10785
19 yrs. 7 mos.
M
ASD
Developmental milestones: age of walking of <2 yrs, langauge delay. Epilepsy/seizures: yes (generalized). Neurological examination: hands shaking. Other features: GERD. Dysmorphic features: none. Growth parameters: height -0.5 SD, weight +1 SD, head circumference +2 SD.
ID (moderate-to-severe)
11089949
11554871
464923
GRCh38
Duplication
No
pinto_10_ASD_discovery_cases-case1265_8
NA
F
ASD
NA
NA
10003776
10830821
827046
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case5519_3
NA
F
ASD
NA
NA
13865216
14019253
154038
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6239_3
NA
M
Autism
No language, strabism, no dysmorphic features, no epilepsy
Severe MR
11396457
11490657
94201
GRCh38
Duplication
Yes
pinto_10_ASD_discovery_cases-case6323_3
NA
M
Autism
Language delay, bilateral myopia, normal physical exam, no epilepsy
Normal IQ
14675094
14818077
142984
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case138820
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
10714898
10736495
21598
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case157610
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
16688233
16707403
19171
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case55310
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16688233
16707403
19171
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case58294L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16688233
16707403
19171
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case59272L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16450499
16461969
11471
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case74431
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
11155719
11168345
12627
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case98321L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
13794606
13932138
137533
Unknown
Duplication
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase29
7 yrs.
M
Learning disability (developmental delay/intellectual disability)
No reported clinical features
13409015
13872480
463466
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11086.p1
7.4
F
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
10480284
10511337
31054
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11160.p1
6.9
F
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11234.p1
10.1
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11466.p1
9.2
M
Aspergers
NA
Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11599.p1
6.6
M
Autism
NA
Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11775.p1
9.7
M
Autism
NA
Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11964.p1
12.4
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
16377579
16378351
773
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13153.p1
9.3
M
Autism
NA
Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
12278115
12278578
464
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13193.p1
6.3
M
Autism
NA
Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
16329774
16336406
6633
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT195
NA
F
ASD
Case met DSM-5 diagnostic criteria for ASD.
13549822
13749436
199615
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case101
10 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
13927593
14149191
221599
GRCh38
Deletion
No
willemsen_12_DD/ID_discovery_cases-case24
M
Intellectual disability
ID, extrapyramidal disorder, dysmorphism
Intellectual disability
15881956
16331956
450001
GRCh38
Duplication
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB257988_1007841389
N/A
N/A
Control
No previous psychiatric history
15644812
15702202
57391
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB290777_1007875864
N/A
N/A
Control
No previous psychiatric history
16714108
16744461
30354
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB309173_1007854770
N/A
N/A
Control
No previous psychiatric history
11838283
12012826
174544
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB634283_1007846481
N/A
N/A
Control
No previous psychiatric history
12622350
12956487
334138
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB777562_1007846115
N/A
N/A
Control
No previous psychiatric history
10255819
10337289
81471
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB889239_1007844977
N/A
N/A
Control
No previous psychiatric history
15587729
15787668
199940
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB923510_1007875812
N/A
N/A
Control
No previous psychiatric history
10202697
10482872
280176
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900402_900402
N/A
N/A
Control
No previous psychiatric history
11110292
11141541
31250
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
N/A
N/A
Control
No previous psychiatric history
15612757
15673559
60803
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902470_902470
N/A
N/A
Control
No previous psychiatric history
16229038
16408121
179084
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
N/A
N/A
Control
No previous psychiatric history
13705027
13772214
67188
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
N/A
N/A
Control
No previous psychiatric history
13839805
13921256
81452
GRCh38
Duplication
No
krumm_15_ASD_discovery_controls-control12078.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
11098348
11121810
23463
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13585.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15750023
15775308
25286
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13980.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15589343
15764775
175433
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14253.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
9873651
10233584
359934
GRCh38
Duplication
Yes
leblond_19_ASD_discovery_controls-controlPN400372
N/A
F
Control
Non-autism control
14008828
14021598
12771
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27173
Control
11473980
11994301
520322
Unknown
Duplication
nord_11_ASD_discovery_controls-04C28209
Control
12601007
12659418
58412
Unknown
Duplication
nord_11_ASD_discovery_controls-04C28263
Control
12486977
12681485
194509
Unknown
Duplication
sanders_11_ASD_discovery_controls-11198.s1
8.8
F
Control (matched sibling)
NA
NA
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11501.s1
13.4
M
Control (matched sibling)
NA
NA
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11502.s1
13.2
M
Control (matched sibling)
NA
NA
10592238
10659908
67671
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11521.s1
15.1
F
Control (matched sibling)
NA
NA
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11622.s1
11.1
F
Control (matched sibling)
NA
NA
13282253
13541697
259445
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11712.s1
8.6
F
Control (matched sibling)
NA
NA
11406730
11441800
35071
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11793.s1
11.1
F
Control (matched sibling)
NA
NA
11957603
12071934
114332
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11869.s1
5.5
F
Control (matched sibling)
NA
NA
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12057.s1
14.3
F
Control (matched sibling)
NA
NA
10766997
10770418
3422
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12184.s1
10.4
F
Control (matched sibling)
NA
NA
10006400
10041158
34759
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12373.s1
11.7
F
Control (matched sibling)
NA
NA
10687525
10727540
40016
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12375.s1
7.5
F
Control (matched sibling)
NA
NA
12002026
12071934
69909
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12380.s1
17
F
Control (matched sibling)
NA
NA
11242406
11256034
13629
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
11336231
11355367
19137
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12532.s1
9
F
Control (matched sibling)
NA
NA
12045513
12496402
450890
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13080.s1
6.8
F
Control (matched sibling)
NA
NA
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13193.s1
11.3
M
Control (matched sibling)
NA
NA
16329774
16336406
6633
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13327.s1
10.3
F
Control (matched sibling)
NA
NA
11941517
12071934
130418
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
annunziata_21_ASD_discovery_cases-caseIB281
qPCR, FISH
Maternal
LIMK2P1,FRMPD4,MSL3
asadollahi_14_NDD_discovery_cases-case62915
MLPA
Maternal
Unknown
Unknown
MIR548AM,S100G,CTPS2
christian_08_ASD_discovery_cases-AU070908
FISH, microsatellite
inherited
Multiplex
NA
RNU6-800P,WWC3,CLCN4,MID1
costa_21_ASD_discovery_cases-caseP32
aCGH (Agilent 180K)
Maternal
RPL6P30,GRPR,MAGEB17
cucinotta_23_ASD_discovery_cases-case208
Paternal
FRMPD4-AS1,FRMPD4
cucinotta_23_ASD_discovery_cases-case77
Paternal
ARHGAP6,LIMK2P1,FRMPD4,MSL3
digregorio_17_DD/ID_discovery_cases-DECIPHER_299921
Maternal
TCEANC,RAB9A,TRAPPC2,OFD1,GPM6B,GEMIN8,EGFL6,GLRA2
digregorio_17_DD/ID_discovery_cases-DECIPHER_300103
Maternal
AMELX,MIR548AX,MSL3,ARHGAP6
engchuan_15_ASD_discovery_cases-case1265_8
Unknown
RNU6-800P,WWC3-AS1,WWC3,CLCN4,MID1
engchuan_15_ASD_discovery_cases-case14143_2410
Unknown
CA5BP1,CA5B
engchuan_15_ASD_discovery_cases-case5519_3
Unknown
GPM6B,GEMIN8
engchuan_15_ASD_discovery_cases-case6239_3
Unknown
ARHGAP6
engchuan_15_ASD_discovery_cases-case6323_3
Unknown
GLRA2
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260346
Maternal
Maternal
Multi-generational
Possibly segregated
MID1
iourov_12_ASD/ID/EP_discovery_cases-case39
Unknown
Unknown
Unknown
MID1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001126
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
HCCS,ARHGAP6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001741
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MSL3,ARHGAP6,FRMPD4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002400
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GS1-600G8.3,GPX1P1,RPL30P15,MIR6086,RN7SKP20,FAM9C,LINC02154,ATXN3L,TCEANC,RAB9A,TRAPPC2,LINC01203,OFD1,GPM6B,EGFL6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002471
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
GPX1P1,RPL30P15,MIR6086,RN7SKP20,TCEANC,RAB9A,TRAPPC2,LINC01203,OFD1,EGFL6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002703
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
HCCS
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002731
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MID1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003870
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FRMPD4-AS1,RPL17P49,RN7SKP290,FRMPD4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004214
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
FRMPD4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005321
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
AMELX,MIR548AX,MSL3,ARHGAP6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005428
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
MID1
krumm_15_ASD_discovery_cases-case13425.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
INE2,ASB11,VEGFD,GS1-594A7.3,CLTRN,CA5BP1,ZRSR2,AP1S2,PIGA,PIR,BMX,ACE2,CA5B
mahjani_22_OCD/CTD_discovery_cases-case48
Unknown
BMX,VEGFD,CLTRN,ACE2,ASB11,CA5BP1,PIGA,ZRSR2,INE2,AP1S2,PIR,CA5B
maini_18_ASD/DD/ID_discovery_cases-case_unknown224
Unknown
Unknown
Unknown
HCCS,ARHGAP6
maini_18_ASD/DD/ID_discovery_cases-case_unknown225
Unknown
Unknown
Unknown
GS1-594A7.3,CLTRN,CA5BP1,ACE2,CA5B
nava_13_ASD_discovery_cases-Fam1122Proband10785
Maternal
Simplex
Unknown
HCCS,AMELX,MIR548AX,ARHGAP6
pinto_10_ASD_discovery_cases-case1265_8
Illumina550;Affy5.0
paternal
NA
NA
RNU6-800P,WWC3-AS1,WWC3,CLCN4,MID1
pinto_10_ASD_discovery_cases-case5519_3
Agilent1M
paternal
NA
NA
GPM6B,GEMIN8
pinto_10_ASD_discovery_cases-case6239_3
qPCR-Maternal
maternal
Simplex
NA
ARHGAP6
pinto_10_ASD_discovery_cases-case6323_3
qPCR-Maternal
maternal
Simplex
NA
GLRA2
prasad_12_ASD_discovery_cases-case138820
Unknown
Unknown
Unknown
MID1
prasad_12_ASD_discovery_cases-case157610
Unknown
Unknown
Unknown
SYAP1
prasad_12_ASD_discovery_cases-case55310
qPCR
Maternal
Simplex
Segregated
SYAP1
prasad_12_ASD_discovery_cases-case58294L
qPCR
Maternal
Simplex
Not segregated (duplication present in unaffected sibling)
SYAP1
prasad_12_ASD_discovery_cases-case59272L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case74431
Unknown
Unknown
Unknown
ARHGAP6
prasad_12_ASD_discovery_cases-case98321L
Unknown
Unknown
Unknown
GPM6B
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase29
BACs aCGH or FISH
Maternal
Unknown
Unknown
RPL30P15,MIR6086,RN7SKP20,TCEANC,RAB9A,TRAPPC2,OFD1,GPM6B,EGFL6
sanders_11_ASD_discovery_cases-11086.p1
Paternal
Simplex (quad-proband matched)
Segregated
MID1
sanders_11_ASD_discovery_cases-11160.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11234.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11466.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11599.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11775.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11964.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13153.p1
Unknown
Simplex (quad-proband matched)
Not segregated
FRMPD4
sanders_11_ASD_discovery_cases-13193.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sandoval_talamantes_23_ASD_discovery_cases-caseAUT195
Unknown
TCEANC,RPL30P15,MIR6086,RN7SKP20,TRAPPC2,OFD1,RAB9A,EGFL6
sansovic_17_DD/ID/ASD_discovery_cases-case101
De novo
GPM6B,GEMIN8
willemsen_12_DD/ID_discovery_cases-case24
Maternal
RNU5F-7P,SETP15,RPL6P30,GRPR,MAGEB17
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB257988_1007841389
Unknown
CLTRN,CA5BP1,CA5B
engchuan_15_ASD_discovery_controls-controlB290777_1007875864
Unknown
SYAP1
engchuan_15_ASD_discovery_controls-controlB309173_1007854770
Unknown
engchuan_15_ASD_discovery_controls-controlB634283_1007846481
Unknown
PSMA6P2,TLR8-AS1,PRPS2,TLR7,TLR8,MRPL35P4,FRMPD4
engchuan_15_ASD_discovery_controls-controlB777562_1007846115
Unknown
engchuan_15_ASD_discovery_controls-controlB889239_1007844977
Unknown
INE2,GS1-594A7.3,CLTRN,CA5BP1,ACE2,CA5B
engchuan_15_ASD_discovery_controls-controlB923510_1007875812
Unknown
CLCN4,MID1
engchuan_15_ASD_discovery_controls-controlHABC_900402_900402
Unknown
HCCS,ARHGAP6
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
Unknown
GS1-594A7.3,CLTRN
engchuan_15_ASD_discovery_controls-controlHABC_902470_902470
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
Unknown
RAB9A,TRAPPC2,OFD1,GPM6B
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
Unknown
GPM6B
krumm_15_ASD_discovery_controls-control12078.s1
Illumina 1MDuo
Paternal
HCCS
krumm_15_ASD_discovery_controls-control13585.s1
1M-Duov3
Maternal
CA5B
krumm_15_ASD_discovery_controls-control13980.s1
Omni2.5-4v1
Maternal
GS1-594A7.3,CLTRN,CA5BP1,ACE2,CA5B
krumm_15_ASD_discovery_controls-control14253.s1
Omni2.5-4v1
Maternal
CLDN34,WWC3-AS1,SHROOM2,WWC3,CLCN4
leblond_19_ASD_discovery_controls-controlPN400372
Unknown
GEMIN8
nord_11_ASD_discovery_controls-04C27173
MSL3,ARHGAP6
nord_11_ASD_discovery_controls-04C28209
FRMPD4
nord_11_ASD_discovery_controls-04C28263
FRMPD4
sanders_11_ASD_discovery_controls-11198.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11501.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11502.s1
Unknown
Simplex (quad)
NA
MID1
sanders_11_ASD_discovery_controls-11521.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11622.s1
Paternal
Simplex (quad)
NA
GS1-600G8.3,GPX1P1,LINC02154,ATXN3L,LINC01203
sanders_11_ASD_discovery_controls-11712.s1
Paternal
Simplex (quad)
NA
ARHGAP6
sanders_11_ASD_discovery_controls-11793.s1
Unknown
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11869.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12057.s1
Both parents
Simplex (quad)
NA
MID1
sanders_11_ASD_discovery_controls-12184.s1
Paternal
Simplex (quad)
NA
WWC3-AS1,WWC3
sanders_11_ASD_discovery_controls-12373.s1
Unknown
Simplex (quad)
NA
MID1
sanders_11_ASD_discovery_controls-12375.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12380.s1
Both parents
Simplex (quad)
NA
ARHGAP6
sanders_11_ASD_discovery_controls-12518.s1
Paternal
Simplex (quad)
NA
ARHGAP6
sanders_11_ASD_discovery_controls-12532.s1
Maternal
Simplex (quad)
NA
FRMPD4-AS1,RPL17P49,FRMPD4
sanders_11_ASD_discovery_controls-13080.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13193.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13327.s1
Unknown
Simplex (quad)
NA
No Animal Model Data Available