20p11.21CNV Type: Deletion-Duplication
Largest CNV size: 383429 bp
Statistics Box:
Number of Reports: 13
Number of Reports: 13
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
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-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion
Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
45
The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
Range, 6 months-25 years
48.89% Male
348615
0
1
1
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
124000
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
79560
3
2
5
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
88062
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
710000
0
1
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1425036
0
3
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
64399
0
1
1
kushima_18_ASD_discovery_cases
Individuals predominantly recruited from the middle of Honshu Island (Japan)
1108
Cases were diagnosed with ASD according to DSM-5 criteria, with diagnostic and screening instruments (ADI-R, ADOS, ASQ, and SRS) used to evaluate ASD-related behaviors and symptoms in the majority of cases.
Median age, 19 years
78.0% Male
46490
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
160304
0
1
1
lionel_13_ASD/ADHD/DD/ID_discovery_cases
Individuals referred for postnatal genetic testing across 10 different sites, including 64,114 subjects with neurodevelopmental disorders, from Alberta Children's Hospital, BBGRE, Boston Children's Hospital, Credit Valley Hospital, the Hospital for Sick Children, Italian diagnostic laboratories, The Mayo Clinic, Odense University Hospital, Signature Genomics, and The Centre for Applied Genomics
89985
64,114 cases with neurodevelopmental disorders (including ASD, ADHD, developmental delay, and/or intellectual disability); 25,871 cases with non-neurodevelopmental disorders (multiple congential anomalies, etc.)
N/A
N/A
190175
0
1
1
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
1866547
1
0
1
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
506000
1
0
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
383429
5
5
10
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
61502
1
2
3
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
2282
1
0
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
kushima_18_ASD/SCZ_discovery_controls
Individuals selected from the general population and predominantly recruited from the middle of Honshu Island (Japan)
2095
Controls had no history of mental disorders based upon responses to questionnaires or self-reporting.
Median age, 37 years
52.0% Male
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
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.
101186
2
0
2
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
7180
0
1
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
86680
1
1
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
allach_el_khattabi_18_ASD/DD/ID_discovery_cases
France, Belgium
aCGH, solid phase hybridization
Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-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
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
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)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
lionel_13_ASD/ADHD/DD/ID_discovery_cases
N/A
aCGH, array SNP, solid phase hybridization
Multiple platforms (Agilent, Affymetrix, Illumina)
None
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
N/A
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
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
None
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
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
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case38
10 yrs.
M
ASD, developmental delay, and learning disabilities
Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 50th %ile, OFC 95th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Motor and musculoskeletal evaluation: long fingers. Behavioral/psychiatric evaluation: ASD, sleep disorders. Additional medical history: cryptorchidism. Dysmorphic features: downslanting palpebral fissures, crumpled ears.
Learning disabilities
25091434
25440048
348615
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_299880
N/A
M
Developmental delay/intellectual disability
23440370
23564839
124470
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case13115_1323
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
22949705
22986936
37232
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case2306_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23877345
23917282
39938
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3100_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23892881
23972441
79561
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5081_4
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
23741355
23811022
69668
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8463_202
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
25406466
25443065
36600
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case556-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
23855932
23943994
88063
GRCh38
Duplication
No
girirajan_13a_ASD_discovery_cases-13303.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
23521363
24231364
710002
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002417
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
25099947
25468308
368362
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002677
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
25089431
25492048
402618
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004969
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
23455796
24880833
1425038
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11996.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
25453450
25517849
64400
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD0760
19 yrs.
F
ASD, ADHD, OCD
Developmental milestones: motor delay. Behavioral/psychiatric evaluation: ADHD, mood disorders, OCD, psychiatric symptoms, eating disorders. Congenital and developmental phenotypes: threatened premature delivery. Family history: negative.
IQ > 70
25564868
25611357
46490
GRCh38
Deletion
N/A
levy_11_ASD_discovery_cases-11049.p1
NA
M
ASD
NA
NA
23965260
24125564
160305
GRCh38
Duplication
No
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
N/A
M
ASD and developmental delay
Autism/autistic behavior, developmental delay
25425161
25615335
190175
GRCh38
Duplication
No
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253406
N/A
M
DD/ID/MCA
Database: DECIPHER. Indication for study: NF (nothing found/no phenotypic information available)
23440370
25306918
1866549
GRCh38
Deletion
N/A
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase19
9 mos.
F
Learning disability (developmental delay/intellectual disability)
Microcephaly, dysmorphism
23122182
23628505
506324
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_cases-11004.p1
15.8
M
ASD
NA
Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
24440534
24445351
4818
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11049.p1
7.6
M
Autism
NA
Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
23967663
24144511
176849
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11818.p1
12.1
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 44; verbal IQ, 30
22554983
22578963
23981
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11996.p1
10
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
25458147
25613052
154906
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12266.p1
5.7
M
Autism
NA
Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
24253315
24254924
1610
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12641.p1
10.3
F
Autism
NA
Full-scale IQ, 69; non-verbal IQ, 74; verbal IQ, 63
22524953
22578963
54011
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12858.p1
4.2
F
Autism
NA
Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
22554983
22578963
23981
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
24408214
24408841
628
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13303.p1
5.6
F
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
23524626
23746938
222313
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13303.p1
5.6
F
ASD
NA
Full-scale IQ, 101; non-verbal IQ, 107; verbal IQ, 90
23871494
24254924
383431
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-controlB275079_1007852942
N/A
N/A
Control
No previous psychiatric history
24894157
24942547
48391
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB985796_1007842488
N/A
N/A
Control
No previous psychiatric history
23667395
23713676
46282
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900021_900021
N/A
N/A
Control
No previous psychiatric history
23691103
23752605
61503
GRCh38
Deletion
No
krumm_13_ASD_discovery_controls-control13589.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13589. SRS score of 38.
25489243
25491525
2283
GRCh38
Deletion
No (not tested)
nord_11_ASD_discovery_controls-04C27491
Control
23653051
23754236
101186
Unknown
Deletion
nord_11_ASD_discovery_controls-04C28486
Control
23134702
23145066
10365
Unknown
Deletion
poultney_13_ASD_discovery_controls-control04C36900A
N/A
F
Control
NIMH Control (NIMH ID 50026)
25510672
25517851
7180
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11074.s1
7.3
M
Control (matched sibling)
NA
NA
23257730
23344410
86681
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12858.s1
6.3
F
Control (matched sibling)
NA
NA
22538726
22578963
40238
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case38
Paternal
Unknown
PPIAP2,ENTPD6,PYGB,ABHD12,GINS1
digregorio_17_DD/ID_discovery_cases-DECIPHER_299880
Paternal
CSTL1,CST11,CST9LP1,CST9L,CST12P,CST8,CST13P
engchuan_15_ASD_discovery_cases-case13115_1323
Unknown
engchuan_15_ASD_discovery_cases-case2306_1
Unknown
CST5
engchuan_15_ASD_discovery_cases-case3100_4
Unknown
CSTP1
engchuan_15_ASD_discovery_cases-case5081_4
Unknown
CST1,CSTP2
engchuan_15_ASD_discovery_cases-case8463_202
Unknown
GINS1
gazzellone_14_ASD_discovery_cases-case556-3
Unknown
Unknown
Unknown
CST5,CSTP1
girirajan_13a_ASD_discovery_cases-13303.p1
Unknown
Simplex
Unknown
CST9LP1,CST9L,CST9LP2,CST9,CST3,CST4,CST2P1,CST1,CST2,CST5,POM121L3P,CST13P,CSTP2,CSTP1,LINC01721,GGTLC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002417
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
PPIAP2,ENTPD6,PYGB,ABHD12,GINS1,NINL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002677
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
PPIAP2,ENTPD6,PYGB,ABHD12,GINS1,NINL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004969
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CST9LP1,CST9L,CST9LP2,CST9,CST3,CST4,CST2P1,CST1,CST2,CST5,POM121L3P,RNU1-23P,GAPDHP53,CST12P,CST8,CST13P,CSTP2,CSTP1,LINC01721,GGTLC1,SYNDIG1
krumm_15_ASD_discovery_cases-case11996.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
NINL
kushima_18_ASD_discovery_cases-caseASD0760
While a subset of CNVs were reported to have been validated by qPCR in the report, precisely which CNVs were validated was not reported
Unknown
Simplex
Unknown
RNU6ATAC17P,NINL
levy_11_ASD_discovery_cases-11049.p1
Maternal
Simplex
Segregated
POM121L3P,GGTLC1
lionel_13_ASD/ADHD/DD/ID_discovery_cases-case36
Unknown
RNU6ATAC17P,NANP,GINS1,NINL
nguyen_13_DD/ID/MCA/ASD_discovery_cases-253406
Unknown
Unknown
Unknown
CSTL1,CST11,CST9LP1,CST9L,CST9LP2,CST9,CST3,CST4,CST2P1,CST1,CST2,CST5,POM121L3P,RNU1-23P,GAPDHP53,RNU6-1257P,VSX1,CST12P,CST8,CST13P,CSTP2,CSTP1,LINC01721,CST7,APMAP,ENTPD6,GGTLC1,SYNDIG1,ACSS1,PYGB,ABHD12
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase19
BACs aCGH or FISH
Unknown
Unknown
Unknown
LINC00656,RNA5SP478,NXT1,LINC01431,RNA5SP479,CSTL1,CST11,CST9LP1,CST9L,CST9LP2,CST9,CST3,GZF1,NAPB,CST12P,CST8,CST13P
sanders_11_ASD_discovery_cases-11004.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11049.p1
Maternal
Simplex (quad-proband matched)
Not segregated
POM121L3P,GGTLC1
sanders_11_ASD_discovery_cases-11818.p1
Unknown
Simplex (quad-proband matched)
Segregated
LINC00261
sanders_11_ASD_discovery_cases-11996.p1
Maternal
Simplex (trio)
NA
RNU6ATAC17P,NANP,NINL
sanders_11_ASD_discovery_cases-12266.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12641.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC00261
sanders_11_ASD_discovery_cases-12858.p1
Unknown
Simplex (quad-proband matched)
Not segregated
LINC00261
sanders_11_ASD_discovery_cases-13175.p1
Both parents
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-13303.p1
Paternal
Simplex (quad-proband matched)
Segregated
CST9LP1,CST9L,CST9LP2,CST9,CST3,CST4,CST2P1,CST13P
sanders_11_ASD_discovery_cases-13303.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CST5,POM121L3P,RNU1-23P,CSTP1,LINC01721,GGTLC1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
Unknown
engchuan_15_ASD_discovery_controls-controlB985796_1007842488
Unknown
CST4,CST2P1
engchuan_15_ASD_discovery_controls-controlHABC_900021_900021
Unknown
CST2P1,CST1
krumm_13_ASD_discovery_controls-control13589.s1
Paternal
Simplex
NINL
nord_11_ASD_discovery_controls-04C27491
CST1,CST2
nord_11_ASD_discovery_controls-04C28486
0 genes
poultney_13_ASD_discovery_controls-control04C36900A
Unknown
NINL
sanders_11_ASD_discovery_controls-11074.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12858.s1
Unknown
Simplex (quad)
NA
LINC00261
No Animal Model Data Available