16q21CNV Type: Deletion-Duplication
Largest CNV size: 1820000 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder
Deletion
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
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay
Deletion
Unveiling genetic insights: Array-CGH and WES discoveries in a cohort of 122 children with essential autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
102000
0
1
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
647750
2
0
2
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
3299029
1
0
1
crepel_14_ASD/ID/ADHD_discovery_cases
Second child of unrelated healthy parents with a de novo complex chromosomal rearrangement [46, XY, t(3;16;5)(q29;q22;q15)inv4(p14;q21)ins(4;5)(q21;q14.3q15)]
1
Diagnosis of ASD (ADI-R), intellectual disability (WISC-III total IQ score of 52), and ADHD
8 yrs.
Male
505100
1
0
1
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1641819
7
1
8
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
108966
1
0
1
granata_25_ASD_discovery_cases
"Patients recruited from the Child Neuropsychiatry Unit and the Cytogenetics and Medical Genetics Unit of ""ASST Sette Laghi"", Varese, Italy."
122
Cases diagnosed with ASD based on DSM-5 criteria and presented without epilepsy, dysmorphic features, intellectual disability, microcephaly, six or more minor anomalies, or systemic congenital malformations.
Range, 3-12 yrs.
85.25% Male
3490918
1
0
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
208219
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
8442
1
0
1
kushima_22_SCZ_discovery_cases
Japanese schizophrenia probands evaluated for copy number variation from an initial cohort of 3,111 probands before quality control.
3014
Cases diagnosed with schizophrenia (SCZ) according to DSM-5 criteria.
Median age, 45 yrs.
53.5% Male
837874
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
37122
1
0
1
pagnamenta_10b_ASD_discovery_cases_1
Autistic proband from IMGSAC family 3099. Proband was included in Pinto et al., 2010 CNV study.
1
Autism (ADI-R & ADOS)
Male
1640000
1
0
1
pagnamenta_10b_ASD_discovery_cases_2
Autistic brothers of proband (case3099-008) from Pinto et al. CNV study.
2
Autism (ADI-R & ADOS)
Male
1640000
2
0
2
pagnamenta_10b_LD_discovery_cases
Heterogeneous cohort of children of Italian descent diagnosed with generalized learning disabilities (LD)
80
Learning disability (LD). Subjects negative for karyotype & telomere-FISH abnormalities, negative for fragile X.
Male
1820000
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
1640000
2
0
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
103966
4
1
5
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
266176
18
3
21
szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases
Patients screened by chromosomal microrarray analysis (CMA) for Xp22.13 duplications involving the CDKL5 gene
27000
Cases with Xp22.13/CDKL5 duplications diagnosed with one or more of the following: ASD, ADHD, developmental delay (DD), intellectual disability (ID), OCD, sensory integration disorder
N/A
N/A
565000
1
0
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
1439900
3
0
3
vissers_20_ASD/DD/ID_discovery_cases
Individual with a heterozygous CNOT1 deletion from an initial cohort of 39 individuals with CNOT1 variants recruited through international collaborations, facilitated by MatchMaker Exchange
1
Case presented with developmental delay, moderate intellectual disability, and epilepsy
22 yrs.
Male
5196
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
137549
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
337166
8
3
11
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
8442
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
2186
1
0
1
kushima_22_ASD/BPD/SCZ_discovery_controls
Psychiatrically normal control individuals selected from the general population evaluated for copy number variation from an initial cohort of 2,713 control individuals before quality control.
2671
Controls were psychiatrically normal and had no history of mental disorders based on responses to questionnaires or self-reporting.
Median age, 36 yrs.
47.8% Male
0
0
0
0
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
73913
1
0
1
pagnamenta_10b_ASD/LD_discovery_controls
Control subjects: 2416 from Popgen study, controls from Ontario Ottawa Heart Control study, or Hapmap controls; 1287 from SAGE control project; 1320 from CHOP pediatric control study
5023
Controls
1820000
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
103966
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.
115470
16
1
17
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
137549
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
brandler_18_ASD_discovery_cases
N/A
WGS
Illumina HiSeq X10 or HiSeq 2500
ForestSV, Lumpy, Manta, Mobster, SV2
PCR, array SNP
costa_21_ASD_discovery_cases
Brazil
aCGH
Agilent 180K
NA
Agilent Genomic Workbench
None
crepel_14_ASD/ID/ADHD_discovery_cases
Belgium
aCGH
180k CytoSure ISCA v2
qPCR
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
granata_25_ASD_discovery_cases
Italy
aCGH
CytoSure ISCA V3 4x180K
CytoSure Interpret (OGT)
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
kushima_22_SCZ_discovery_cases
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
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
pagnamenta_10b_ASD_discovery_cases_1
European
Solid phase hybridization
Illumina 1M
Long range PCR, Sanger sequencing
pagnamenta_10b_ASD_discovery_cases_2
European
Solid phase hybridization
Illumina 1M
Long range PCR, Sanger sequencing
pagnamenta_10b_LD_discovery_cases
Italian
aCGH
Agilent 44K
aCGH, qPCR, long range PCR
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
szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases
N/A
aCGH
V8.0 OLIGO, V8.1.1 OLIGO, V8.2 OLIGO HR+SNP, V8.3 OLIGO HR+SNP, 180K, V9.1.1 OLIGO HR+SNP, 400K (Medical Genetics Laboratories at Baylor College of Medicine/Agilent)
None
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
vissers_20_ASD/DD/ID_discovery_cases
N/A
N/A
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
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_22_ASD/BPD/SCZ_discovery_controls
Japan
aCGH
NimbleGen 720K Whole-Genome Tiling, Agilent SurePrint G3 Human CGH 400K
Fast Adaptive States Segmentation Technique 2
BioDiscovery Nexus Copy Number v.9.0
qRT-PCR
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
pagnamenta_10b_ASD/LD_discovery_controls
European
Array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 550K
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
battaglia_13_DD/ID/ASD_discovery_cases-case73
4 yrs. 7 mos.
F
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Mild DD/ID
57668793
57771265
102473
GRCh38
Duplication
Yes
brandler_18_ASD_discovery_cases-caseMT_33.3
N/A
F
ASD
Case from REACH cohort
61788347
61801096
12750
GRCh38
Deletion
Yes
brandler_18_ASD_discovery_cases-caseREACH000504
N/A
F
ASD
Case from REACH cohort
61310197
61957946
647750
GRCh38
Deletion
No
costa_21_ASD_discovery_cases-caseP137
NA
M
ASD and seizures
Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: seizures, developmental regression, speech alteration.
61915642
65214670
3299029
GRCh38
Deletion
No
crepel_14_ASD/ID/ADHD_discovery_cases-case1
8 yrs.
M
ASD, ID, and ADHD
Diagnosis of ASD (ADI-R). Birth/neontal history: born at PML 40 weeks; no neonatal problems. Developmental milestones: slightly delayed motor milestones; global developmental delay (estimated IQ of 71 on Bayley test) and speech delay at age of 3.6 years. Lanaguge and communication evaluation: pronounced delay in speech development with echolalia. Behavioral/psychiatric evaluation: poor communication, poor social interaction, and stereotypic behavior; hyperactivity; severe behavioral problems with destructive behavior. Dysmorphic features: none. Growth parameters: normal length, weight, and head circumference at 5.5 years of age. Family history: second child of unrelated healthy parents. Karyotype: de novo complex chromosomal rearrangement [46, XY, t(3;16;5)(q29;q22;q15)inv4(p14;q21)ins(4;5)(q21;q14.3q15)].
Mild intellectual disability (WISC-III total IQ score of 52 at age of 8 years)
64465853
64970903
505051
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case1165_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
62524664
62654927
130264
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14251_3750
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63059030
63196579
137550
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3010_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
65363379
65689159
325781
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3010_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
59769019
59808797
39779
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3025_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
60211592
60369573
157982
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case3099_8
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
61435752
63077571
1641820
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5206_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63394419
63456309
61891
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5468_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
63646462
63684145
37684
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU043903
Autism
61125373
61234338
108966
Unknown
Deletion
No
granata_25_ASD_discovery_cases-caseA017
M
ASD
Case diagnosed with ASD based on DSM-5 criteria.
60031092
63522009
3490918
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case44
4 yrs.
NA
Intellectual disability
Speech delay, neurobehavioral disorder
Intellectual disability
59685925
59894144
208220
GRCh38
Duplication
No
krumm_13_ASD_discovery_cases-case13366.p1
N/A
M
ASD
ASD proband from SSC quad family 13366. SRS score of 74.
Full-scale IQ (FSIQ) score of 124.
57562093
57570535
8443
GRCh38
Deletion
No (not tested)
kushima_22_SCZ_discovery_cases-caseSCZ1767
NA
NA
Schizophrenia
Diagnosis of schizophrenia according to DSM-5 criteria.
64396163
65234036
837874
GRCh38
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0281-003
NA
M
ASD
NA
NA
58951374
58988495
37122
GRCh38
Deletion
Yes
pagnamenta_10b_ASD_discovery_cases_1-case3099-008
NA
M
Autism
Diagnosis of autism (based on ADI-R & ADOS). Word and phrase delay. Head circumference in 90th-97th percentile. Subject was included in Pinto et al., 2010 CNV study.
Vineland Adaptive Behavior Scales scores <50 on all domains of socialization, communication, & daily living skills.
60025584
61667839
1640000
Unknown
Deletion
Yes
pagnamenta_10b_ASD_discovery_cases_2-case3099-006
NA
M
Autism
Diagnosis of autism (based on ADI-R & ADOS). Word and phrase delay. History of regression. In treatment for language delay & learning disabilities. Head circumference in 90th-97th percentile.
Vineland Adaptive Behavior Scales scores <50 on all domains of socialization, communication, & daily living skills.
60025584
61667839
1640000
Unknown
Deletion
Yes
pagnamenta_10b_ASD_discovery_cases_2-case3099-007
NA
M
Autism
Diagnosis of autism (based on ADI-R & ADOS). Word and phrase delay. Head circumference in 90th-97th percentile.
Vineland Adaptive Behavior Scales scores <50 on all domains of socialization, communication, & daily living skills.
60025584
61667839
1640000
Unknown
Deletion
Yes
pagnamenta_10b_LD_discovery_cases-case09_003
20 yrs. 11 mo.
M
Learning disability (LD)
No diagnosis of autism based on ADI-R (social interaction 6, communication 6, repetitive behaviors 0) and ADOS (social 3, communication 1, play 2) scores. Report of language delay as a child. No history of epilepsy or other comorbid medical problems. Peripheral palsy of right 7 facial nerve reported by 11 yrs, obesity noted at 14 yrs. Brother with CNV has normal IQ but reported history of language delay & treatment for learning disability. Father with CNV scored in borderline IQ range.
IQ<45 (WAIS-R), significant impairment on Vineland Adaptive Behavior Scales
60133122
61956067
1822946
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case1165_3
NA
M
Autism
Non verbal, poor suck at birth, floppy infant, gastrointestinal problems
MR
62524664
62654927
130264
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case3099_008
NA
M
Autism
NA
MR
61435752
63077571
1641820
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100149
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
61658969
61754069
95101
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case50005
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
59884789
59965904
81116
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case64129L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
61827893
61931858
103966
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case66559
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
58258049
58339983
81935
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case72934
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
57535191
57596514
61324
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11057.p1
8.7
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
60530184
60531754
1571
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11101.p1
5.2
M
Autism
NA
Full-scale IQ, 46; non-verbal IQ, 57; verbal IQ, 38
63901782
63915200
13419
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11200.p1
6.8
M
Autism
NA
Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
63269405
63384875
115471
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11294.p1
6.2
M
Autism
NA
Full-scale IQ, 80; non-verbal IQ, 79; verbal IQ 87
59213779
59218224
4446
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11352.p1
5.3
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 59; verbal IQ, 60
60530184
60531754
1571
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11495.p1
5.2
M
Autism
NA
Full-scale IQ, 118; non-verbal IQ, 113; verbal IQ, 120
60530184
60531754
1571
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11505.p1
6.3
M
Autism
NA
Full-scale IQ, 76; non-verbal IQ, 85; verbal IQ, 67
64041792
64077287
35496
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11540.p1
8.2
M
Autism
NA
Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 55
61965258
61987976
22719
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11544.p1
15.5
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
60530184
60531754
1571
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11913.p1
4.5
F
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 99; verbal IQ, 105
58391064
58405286
14223
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11941.p1
10.9
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 86
61605371
61617857
12487
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12026.p1
6.6
M
Autism
NA
Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
63394419
63440015
45597
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12041.p1
6.7
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 119; verbal IQ, 87
64041792
64077287
35496
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12607.p1
5.3
M
ASD
NA
Full-scale IQ, 105; non-verbal IQ, 104; verbal IQ, 104
58167945
58175492
7548
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12651.p1
10.8
M
Autism
NA
Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
61582958
61589662
6705
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12782.p1
13.1
M
Autism
NA
Full-scale IQ, 74; non-verbal IQ, 76; verbal IQ, 77
63128700
63147083
18384
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12892.p1
6.3
M
ASD
NA
Full-scale IQ, 69; non-verbal IQ, 79; verbal IQ, 63
63248176
63362171
113996
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12961.p1
4.4
M
Autism
NA
Full-scale IQ, 115; non-verbal IQ, 125; verbal IQ, 93
63128700
63394876
266177
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13175.p1
11.7
M
Autism
NA
Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
63310828
63341938
31111
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13222.p1
17.1
F
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 86; verbal IQ, 93
58167945
58179119
11175
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13296.p1
5.9
M
Autism
NA
Full-scale IQ, 30; non-verbal IQ, 44; verbal IQ, 15
63253645
63362171
108527
GRCh38
Duplication
No
szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case4
14 yrs.
M
Developmental delay
Case met clinical diagnosis for Marfan syndrome at age of 13 years (tall stature, malar hypoplasia, pectus carinatum and excavatum, slight scoliosis, arachnodactyly, bilateral thumb and signs, hind foot deformities, and dilated aorta); parents have refused further genetic testing to confirm this diagnosis. Developmental milestones: walked at 18 months; first words at 2 years of age. Motor and musculoskeletal evaluation: problems with gross motor activity, difficulty writing for school work activities; mixed pectus deformity that does not require surgery, pes planus, hyperextensibility. Behavioral/psychiatric evaluation: seems to be always fatigues and is sometimes easily distracted; no diagnosis of ADHD has been made. Additional medical history: enlarged aorta; history of neuroblastoma of right adrenal gland. Dysmorphic features: facial asymmetry. Growth parameters: tall stature and macrocephaly; height >97th %ile, weight 90th-97th %ile, head circumference >2 SD (OFC 56 cm).
Slightly delayed development; consistently performed at or above grade level (homeschooled), but had issues with becoming confused while performing multiple step tasks.
63137253
63702741
565489
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR026-B4-3099.006
NA
ASD
NA
NA
61550295
62990195
1439901
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR026-C4-3099.007
NA
ASD
NA
NA
61550295
62990195
1439901
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR026-D4-3099.008
NA
ASD
NA
NA
61550295
62990195
1439901
GRCh38
Deletion
Yes
vissers_20_ASD/DD/ID_discovery_cases-case38
22 yrs.
M
Developmental delay, intellectual disability, and epilepsy/seizures
Birth/neonatal history: congenital microcephaly (head circumference at birth < -2.0 SD). Developmental milestones: developmental delay, speech delay. Motor and musculoskeletal evaluation: scoliosis, dystonia. Epilepsy: onset at 2 years. Brain imaging: Chiari I malformation. Additional medical history: dysmorphic facial features, aortic root dilation, myopia. Growth parameters: current head circumference < -3.0 SD, short stature (height < -3.0 SD). this patient also had a paternally-inherited 15q11.2 deletion.
Moderate intellectual disability
58555230
58560425
5196
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case2-1175-003
N/A
M
ASD
N/A
N/A
63067270
63163827
96558
GRCh38
Deletion
Yes
walker_13_ASD_discovery_cases-case8-14251-3750
N/A
M
ASD
N/A
N/A
63059030
63196579
137550
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
engchuan_15_ASD_discovery_controls-controlB178854_1007854183
N/A
N/A
Control
No previous psychiatric history
58974213
59015686
41474
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
N/A
N/A
Control
No previous psychiatric history
59382807
59467311
84505
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB668643_1007875831
N/A
N/A
Control
No previous psychiatric history
63037283
63085645
48363
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB679322_1007874531
N/A
N/A
Control
No previous psychiatric history
61293707
61374056
80350
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlB781458_1007853673
N/A
N/A
Control
No previous psychiatric history
65328830
65367267
38438
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB967654_1007872241
N/A
N/A
Control
No previous psychiatric history
63492312
63829478
337167
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900522_900522
N/A
N/A
Control
No previous psychiatric history
62088390
62197459
109070
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901090_901090
N/A
N/A
Control
No previous psychiatric history
58219556
58288947
69392
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_901187_901187
N/A
N/A
Control
No previous psychiatric history
63394876
63440015
45140
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902623_902623
N/A
N/A
Control
No previous psychiatric history
59382807
59467311
84505
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902827_902827
N/A
N/A
Control
No previous psychiatric history
63128700
63388042
259343
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13366.s1
N/A
F
Control
Unaffected sibling from SSC quad family 13366. SRS score of 56.
57562093
57570535
8443
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_controls-control13133.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
58676288
58678474
2187
GRCh38
Deletion
Yes
nord_11_ASD_discovery_controls-04C27941
Control
62053358
62127270
73913
Unknown
Deletion
sanders_11_ASD_discovery_controls-11071.s1
20
F
Control (matched sibling)
NA
NA
63394419
63464249
69831
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11101.s1
6.7
F
Control (matched sibling)
NA
NA
63901782
63947367
45586
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11142.s1
4.5
F
Control (matched sibling)
NA
NA
60530184
60531754
1571
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11200.s1
9.5
F
Control (matched sibling)
NA
NA
63269405
63384875
115471
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11512.s1
4.3
F
Control (matched sibling)
NA
NA
60053426
60061475
8050
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11540.s1
14.7
F
Control (matched sibling)
NA
NA
61957706
61987976
30271
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11556.s1
7.3
F
Control (matched sibling)
NA
NA
60530184
60531754
1571
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11673.s1
7.9
M
Control (matched sibling)
NA
NA
63552586
63577694
25109
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11794.s1
4.3
F
Control (matched sibling)
NA
NA
64041792
64077287
35496
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11879.s1
8.1
M
Control (matched sibling)
NA
NA
60053426
60061475
8050
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11941.s1
8.7
F
Control (matched sibling)
NA
NA
61605371
61617857
12487
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11982.s1
5.1
F
Control (matched sibling)
NA
NA
60053426
60061475
8050
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12041.s1
4.3
M
Control (matched sibling)
NA
NA
64041792
64077287
35496
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12518.s1
4.7
F
Control (matched sibling)
NA
NA
64041792
64077287
35496
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12651.s1
15.8
M
Control (matched sibling)
NA
NA
61582958
61589662
6705
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12782.s1
12.9
F
Control (matched sibling)
NA
NA
63128700
63147083
18384
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12892.s1
15.4
F
Control (matched sibling)
NA
NA
63248176
63362171
113996
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
battaglia_13_DD/ID/ASD_discovery_cases-case73
FISH or qPCR
Paternal
Paternal
Possible multi-generational
Segregated
DRC7,KATNB1,KIFC3,ADGRG3
brandler_18_ASD_discovery_cases-caseMT_33.3
PCR or SNP data validation
Maternal
CDH8
brandler_18_ASD_discovery_cases-caseREACH000504
Determined to be false positive after PCR or SNP data validation
Maternal
RN7SKP76,CDH8
costa_21_ASD_discovery_cases-caseP137
Maternal
CDH11,CDH8,RPS15AP34,RNU6-21P,UBE2FP2,LINC02165,LINC02126,PPIAP48,CDH8-AS1
crepel_14_ASD/ID/ADHD_discovery_cases-case1
qPCR
De novo
Simplex
Segregated
PPIAP48,CDH11
engchuan_15_ASD_discovery_cases-case1165_3
Unknown
engchuan_15_ASD_discovery_cases-case14251_3750
Unknown
UBE2FP2
engchuan_15_ASD_discovery_cases-case3010_3
Unknown
LINC00922
engchuan_15_ASD_discovery_cases-case3010_3
Unknown
engchuan_15_ASD_discovery_cases-case3025_4
Unknown
engchuan_15_ASD_discovery_cases-case3099_8
Unknown
RN7SKP76,RNU6-21P,CDH8
engchuan_15_ASD_discovery_cases-case5206_3
Unknown
engchuan_15_ASD_discovery_cases-case5468_3
Unknown
gai_11_ASD_replication_cases-AU043903
Inherited
0 genes
granata_25_ASD_discovery_cases-caseA017
Maternal
CDH8,RPS15AP34,RPS27AP16,NPAP1L,GNPATP,RNU6-21P,UBE2FP2,LINC02141,RN7SKP76,CDH8-AS1
iourov_12_ASD/ID/EP_discovery_cases-case44
Unknown
Unknown
Unknown
APOOP5,LINC02141
krumm_13_ASD_discovery_cases-case13366.p1
Maternal
Simplex
Not segregated
ADGRG5
kushima_22_SCZ_discovery_cases-caseSCZ1767
qRT-PCR
Unknown
CDH11,LINC02126,PPIAP48
marshall_08_ASD_discovery_cases-SK0281-003
qPCR, qmPCR
Unknown
NA
NA
pagnamenta_10b_ASD_discovery_cases_1-case3099-008
Long range PCR, Sanger sequencing
Maternal
Multiplex
Segregated
CDH8
pagnamenta_10b_ASD_discovery_cases_2-case3099-006
Long range PCR, Sanger sequencing
Maternal
Multiplex
Segregated
CDH8
pagnamenta_10b_ASD_discovery_cases_2-case3099-007
Long range PCR, Sanger sequencing
Maternal
Multiplex
Segregated
CDH8
pagnamenta_10b_LD_discovery_cases-case09_003
aCGH, qPCR, long range PCR
Paternal
Possibly multiplex
Segregated
GNPATP,RPS27AP16,RN7SKP76,CDH8
pinto_10_ASD_discovery_cases-case1165_3
Illumina550;Affy5.0
maternal
NA
NA
pinto_10_ASD_discovery_cases-case3099_008
LR-PCR,breakpointsequencing,Affy10K-Maternal
maternal
Multiplex
Segregated
RN7SKP76,RNU6-21P,CDH8
prasad_12_ASD_discovery_cases-case100149
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case50005
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case64129L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case66559
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case72934
Unknown
Unknown
Unknown
0 genes
sanders_11_ASD_discovery_cases-11057.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11101.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11200.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS15AP34
sanders_11_ASD_discovery_cases-11294.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-11352.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11495.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11505.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11540.p1
Maternal
Simplex (quad-proband matched)
Not segregated
CDH8
sanders_11_ASD_discovery_cases-11544.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11913.p1
Unknown
Simplex (quad-proband matched)
Segregated
GINS3
sanders_11_ASD_discovery_cases-11941.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12026.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12041.p1
Both parents
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12607.p1
Unknown
Simplex (trio)
NA
CSNK2A2
sanders_11_ASD_discovery_cases-12651.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12782.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12892.p1
Maternal
Simplex (quad-proband matched)
Not segregated
RPS15AP34
sanders_11_ASD_discovery_cases-12961.p1
Paternal
Simplex (trio)
NA
UBE2FP2,RPS15AP34
sanders_11_ASD_discovery_cases-13175.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-13222.p1
Unknown
Simplex (quad-proband matched)
Not segregated
CSNK2A2
sanders_11_ASD_discovery_cases-13296.p1
Paternal
Simplex (quad-proband matched)
Not segregated
RPS15AP34
szafranski_14_ASD/ADHD/DD/ID/OCD_discovery_cases-case4
Unknown
Unknown
Unknown
UBE2FP2,RPS15AP34
szatmari_07_ASD_discovery_cases-NAAR026-B4-3099.006
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RN7SKP76,RNU6-21P,CDH8
szatmari_07_ASD_discovery_cases-NAAR026-C4-3099.007
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RN7SKP76,RNU6-21P,CDH8
szatmari_07_ASD_discovery_cases-NAAR026-D4-3099.008
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
RN7SKP76,RNU6-21P,CDH8
vissers_20_ASD/DD/ID_discovery_cases-case38
De novo
SNORA50A,CNOT1
walker_13_ASD_discovery_cases-case2-1175-003
Long-range PCR or qPCR
Maternal
Simplex
Segregated
walker_13_ASD_discovery_cases-case8-14251-3750
Long-range PCR or qPCR
Paternal
Simplex
Segregated
UBE2FP2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB178854_1007854183
Unknown
engchuan_15_ASD_discovery_controls-controlB331842_1007873285
Unknown
engchuan_15_ASD_discovery_controls-controlB668643_1007875831
Unknown
engchuan_15_ASD_discovery_controls-controlB679322_1007874531
Unknown
engchuan_15_ASD_discovery_controls-controlB781458_1007853673
Unknown
LINC00922
engchuan_15_ASD_discovery_controls-controlB967654_1007872241
Unknown
LINC02165
engchuan_15_ASD_discovery_controls-controlHABC_900522_900522
Unknown
RNU6-21P
engchuan_15_ASD_discovery_controls-controlHABC_901090_901090
Unknown
CCDC113,PRSS54
engchuan_15_ASD_discovery_controls-controlHABC_901187_901187
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902623_902623
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902827_902827
Unknown
UBE2FP2,RPS15AP34
krumm_13_ASD_discovery_controls-control13366.s1
Maternal
Simplex
ADGRG5
krumm_15_ASD_discovery_controls-control13133.s1
1M-Duov3
Paternal
SLC38A7
nord_11_ASD_discovery_controls-04C27941
0 genes
sanders_11_ASD_discovery_controls-11071.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11101.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11142.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11200.s1
Paternal
Simplex (quad)
NA
RPS15AP34
sanders_11_ASD_discovery_controls-11512.s1
Both parents
Simplex (quad)
NA
LINC02141
sanders_11_ASD_discovery_controls-11540.s1
Maternal
Simplex (quad)
NA
CDH8
sanders_11_ASD_discovery_controls-11556.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11673.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11794.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11879.s1
Paternal
Simplex (quad)
NA
LINC02141
sanders_11_ASD_discovery_controls-11941.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11982.s1
Maternal
Simplex (quad)
NA
LINC02141
sanders_11_ASD_discovery_controls-12041.s1
Both parents
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12518.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12651.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12782.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12892.s1
Maternal
Simplex (quad)
NA
RPS15AP34
No Animal Model Data Available