19p13.11CNV Type: Deletion-Duplication
Largest CNV size: 42459 bp
Statistics Box:
Number of Reports: 17
Number of Reports: 17
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...
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis.
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
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
Deletion
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
254000
0
1
1
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
1518
1
0
1
gai_11_ASD_replication_cases
Replication case samples derived from AGRE sets 1-3
593
Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
39324
1
0
1
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
190568
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
540920
3
0
3
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
542
0
1
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
13014
1
38
39
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
17340
1
0
1
kushima_22_ASD_discovery_cases
Japanese ASD probands evaluated for copy number variation from an initial cohort of 1,236 probands before quality control.
1205
Cases diagnosed with autism spectrum disorder (ASD) according to DSM-5 criteria.
Median age, 19 yrs.
77.6% Male
17341
1
0
1
larson_17_ASD_discovery_cases
Participants with a dual diagnosis of ASD and psychosis that were recruited from clinical services in the public and independent sectors in the United Kingdom, as well as from charities and an Asperger's syndrome social networking website (study took place from January 2011 and April 2014)
116
All cases with a dual diagnosis of ASD and psychosis (affective, schizophrenic, and atypical)
N/A
N/A
106673
0
1
1
latypova_21_ASD/ADHD/DD/ID_discovery_cases
Individuals with de novo deletions affecting the SIN3B gene (three of these individuals were from DECIPHER)
5
All five individuals presented with developmental delay and/or intellectual disability; one case was diagnosed with autism spectrum disorder, and two cases were diagnosed with ADHD.
Range, 2 yrs. 6 mos.-20 yrs.
60.00% Male
1023548
4
0
4
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
34450
0
1
1
poultney_13_ASD_discovery_cases
ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
299
Cases diagnosed with ASD
N/A
79.86% Male (before filtering)
6674
0
3
3
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
19829
2
2
4
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
42691
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
42459
2
6
8
wang_18_TS_discovery_cases
Probands from 789 trio families (582 simplex trios, 103 multi-generational trios, and 104 trios with insufficient parental phenotypic data) from TIC Genetics, TAAICG, UTC, and TSGENESEE cohorts
789
Probands diagnosed with Tourette syndrome
N/A
80.57% Male
195330
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
53981
0
1
1
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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
3522
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
22735
0
26
26
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
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
larson_17_ASD_discovery_controls
Entries listed in the Database of Genomic Variants (up to October 2017)
N/A
Control
N/A
N/A
106673
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
36798
1
0
1
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
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)
6674
0
4
4
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)
19829
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.
68772
5
1
6
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD_discovery_cases
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
kushima_22_ASD_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
larson_17_ASD_discovery_cases
United Kingdom
Array SNP
Affymetrix CytoScan HD 2.8M, Affymetrix Cytogenetics
SNP-FASST2 Segmentation
Nexus Copy Number 7 (BioDiscovery), Affymetrix ChAS
None
latypova_21_ASD/ADHD/DD/ID_discovery_cases
France, Belgium, United States, and United Kingdom
CMA
Agilent 60K, Agilent 180K (BCM v.8.1), ISCA v.2 60K
None
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
poultney_13_ASD_discovery_cases
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
qPCR
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
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
wang_18_TS_discovery_cases
N/A
WES
Agilent SureSelect v1.1, Nimblegen EZ v2, Nimblegen EZ v3, IDT xGen
CoNIFER
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
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
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
kushima_18_ASD/SCZ_discovery_controls
Japanese
aCGH
NimbleGen 720K, Agilent 400K
FASST2
Nexus Copy Number v.9.0
N/A
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
larson_17_ASD_discovery_controls
N/A
N/A
N/A
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
asadollahi_14_NDD_discovery_cases-case59700
7 yrs.
M
Developmental delay
Global developmental delay, congenital cerebellar ataxia, sensorineural hearing loss
17311985
17565530
253546
GRCh38
Duplication
Yes
brandler_18_ASD_replication_cases-caseSSC10693
N/A
M
ASD
Case from SSC_phase2 cohort
17826286
17827803
1518
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU015004
Autism
17621232
17660555
39324
Unknown
Deletion
No
gazzellone_14_ASD_discovery_cases-case556-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
17381864
17572432
190569
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004223
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
18424057
18685221
261165
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005286
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
17922234
18463153
540920
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005377
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
16485144
16672218
187075
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case11298.p1
N/A
M
ASD
ASD proband from SSC quad family 11298. SRS score of 90.
Full-scale IQ (FSIQ) score of 141.
18593565
18594107
543
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_cases-case11001.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
18193863
18200445
6583
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11025.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11093.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11121.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18193863
18200445
6583
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11176.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18193863
18200445
6583
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11193.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11200.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11215.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11349.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11441.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18193863
18200445
6583
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11450.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11470.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11644.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11766.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17341322
8394
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case11846.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12076.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332927
17339601
6675
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12137.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12233.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12360.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17333689
17339266
5578
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12361.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12407.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12594.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
18905552
18913067
7516
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case12775.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17333100
17339266
6167
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case12967.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13031.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17332929
17341703
8775
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13038.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13039.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
18193863
18200447
6585
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13171.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
16490366
16503380
13015
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13573.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13575.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13606.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13628.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13782.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
17333421
17339268
5848
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13821.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14082.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14116.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14195.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14443.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14475.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
17332929
17339599
6671
GRCh38
Duplication
Yes
kushima_18_ASD_discovery_cases-caseASD1072
26 yrs.
M
ASD
No additional clinical information reported for this individual. Family history: unknown.
17607118
17624457
17340
GRCh38
Deletion
N/A
kushima_22_ASD_discovery_cases-caseASD1072
NA
NA
ASD
Diagnosis of ASD according to DSM-5 criteria.
17607117
17624457
17341
GRCh38
Deletion
Yes
larson_17_ASD_discovery_cases-case2
N/A
F
ASD and psychosis
Female, above average IQ, age of onset 20s, atypical psychosis (no consensus diagnosis), no family history (fifth unique CNV for this individual. CNV not reported in DGV.
Above average IQ
19331913
19438586
106674
GRCh38
Duplication
No
latypova_21_ASD/ADHD/DD/ID_discovery_cases-case1
20 yrs.
M
ASD, ADHD, and developmental delay
Growth retardation (weight -4 SD, height -2 SD), delayed ability to walk (18 months), a diagnosis of autism spectrum disorder at 18 years, a diagnosis of ADHD at 18 years, dysmorphic features (synophrys, micrognathia, small and low-set ears, brachydactyly), short hands, myopia, daytime hypersomnia, decreased melatonin urinary excretion, easy fatigability, general slowness, very poor social relationships, global motor difficulties, dyspraxia, attention deficiency, temporospatial disorientation, relational difficulties, migraines (DECIPHER ID 332280).
16737629
17761176
1023548
GRCh38
Deletion
No
latypova_21_ASD/ADHD/DD/ID_discovery_cases-case3
2 yrs. 6 mos.
M
Developmental delay
Born to non-consanguineous Algerian parents; postnatal microcephaly (OFC -3 SD at 29 months), global developmental delay, delayed ability to sit (17 months), delayed ability to walk (2 years 4 months), speech delay (expressive language delay with first words at 24 months), short corpus callosum, olfactory bulb agenesis, dysmorphic features, ventricular septal defect, left iris coloboma, ocular anterior segment dysgenesis, left cleft lip and palate, micropenis (patient 3 in this report).
16489139
17358573
869435
GRCh38
Deletion
No
latypova_21_ASD/ADHD/DD/ID_discovery_cases-case4
8 yrs. 10 mos.
F
Intellectual disability
Speech articulation difficulties, difficulties with pronounciation, hyperactivity, impulsivity, low frustration tolerance, anxiety, poor coordination, hypersalivation, mild tonsillar ectopia, dysmorphic features, clinodactyly of the second and fifth digits, tapered distal phalanges, bifid uvula, strabismus, umbilical hernia, clumsiness, myopia, hypotonia
Intellectual disability (WISC-IV), learning difficulties
16346144
17222673
876530
GRCh38
Deletion
No
latypova_21_ASD/ADHD/DD/ID_discovery_cases-case5
3 yrs. 10 mos.
M
Developmental delay
Mild developmental delay, delayed ability to walk (24 months), dysmorphic features, tetralogy of Fallot, preauricular pit, pectus carinatum, small for gestational age (birth weight 2nd-9th %ile), bronchiolitis at 4 weeks, heart murmur, persistent drooling; this patient was twin 2 of a dichorionic diamniotic pregnancy born after induction at 37 weeks with breech presentation, and his twin brother had normal developmental milestones (DECIPHER ID 308455)
16541404
16968223
426820
GRCh38
Deletion
No
nord_11_ASD_discovery_cases-256-1
ASD
17350234
17384683
34450
Unknown
Duplication
No
poultney_13_ASD_discovery_cases-case04HI3540A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1393306; NDAR ID NDAR_INVDL294GEW)
17332928
17339601
6674
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3589A
N/A
F
ASD
ASD case from AGRE (AGRE ID AU1251302; NDAR ID NDAR_INVZT158JZC)
17332928
17339601
6674
GRCh38
Duplication
No
poultney_13_ASD_discovery_cases-case05HI3863A
N/A
M
ASD
ASD case from AGRE (AGRE ID AU1340303; NDAR ID NDAR_INVFV383HNG)
17332928
17339601
6674
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case121851
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
17029955
17039560
9606
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case154267L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
18154567
18171834
17268
Unknown
Duplication
Yes
prasad_12_ASD_discovery_cases-case62251L
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
17196616
17213108
16493
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case66673
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
18154567
18174395
19829
Unknown
Duplication
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
Developmental delay: yes. Intellectual disability: unknown.
17168169
17210860
42692
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11277.p1
10.2
F
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
18184023
18200389
16367
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11441.p1
7.8
M
Autism
NA
Full-scale IQ, 125; non-verbal IQ, 119; verbal IQ, 126
18184023
18200389
16367
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11499.p1
7
M
Autism
NA
Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
17330679
17339637
8959
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12250.p1
10.8
F
Aspergers
NA
Full-scale IQ, 85; non-verbal IQ, 78; verbal IQ, 103
17336304
17339637
3334
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12405.p1
6.3
M
Autism
NA
Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
18184023
18200389
16367
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12515.p1
6.3
F
ASD
NA
Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
18129317
18171776
42460
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13039.p1
6.3
M
Autism
NA
Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
18184023
18200389
16367
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13323.p1
4.7
M
Autism
NA
Full-scale IQ, 111; non-verbal IQ, 114; verbal IQ, 101
18129317
18168870
39554
GRCh38
Deletion
No
wang_18_TS_discovery_cases-caseM_Gre_53.p1
N/A
N/A
Tourette syndrome
Tourette syndrome proband from phase 2 cohort; no additional clinical information available
19429240
19624569
195330
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-controlHABC_901073_901073
N/A
N/A
Control
No previous psychiatric history
19518560
19572541
53982
GRCh38
Duplication
No
krumm_13_ASD_discovery_controls-control12838.s1
N/A
F
Control
Unaffected sibling from SSC quad family 12838. SRS score of 41.
18919222
18922744
3523
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11121.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
18177848
18200445
22598
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11152.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11252.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11336.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11349.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11421.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11441.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
18177710
18200445
22736
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11450.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11615.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11766.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control11868.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12360.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12361.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12526.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12534.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17331294
17339266
7973
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12597.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
18193863
18200445
6583
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12657.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12838.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
18919741
18922744
3004
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13403.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13507.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13653.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339266
6338
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13835.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17341322
8394
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control13991.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14030.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17339599
6671
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14423.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332927
17339601
6675
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14443.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
17332929
17352369
19441
GRCh38
Duplication
Yes
levy_11_ASD_discovery_controls-11498.s1
NA
M
Control
NA
NA
19729743
19766540
36798
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control04C31069A
N/A
M
Control
NIMH Control (NIMH ID 68756)
17332928
17339601
6674
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control04C36900A
N/A
F
Control
NIMH Control (NIMH ID 50026)
17332928
17339601
6674
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C42628A
N/A
M
Control
NIMH Control (NIMH ID 34873)
17332928
17339601
6674
GRCh38
Duplication
No
poultney_13_ASD_discovery_controls-control05C43337
N/A
M
Control
NIMH Control (NIMH ID 53939)
17332928
17339601
6674
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11038.s1
6.5
F
Control (matched sibling)
NA
NA
18147702
18166046
18345
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11441.s1
4.3
M
Control (matched sibling)
NA
NA
18184023
18200389
16367
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-11498.s1
5.9
M
Control (matched sibling)
NA
NA
19696531
19765303
68773
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12239.s1
7.4
M
Control (matched sibling)
NA
NA
17815576
17817095
1520
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12515.s1
4.2
M
Control (matched sibling)
NA
NA
18129317
18168870
39554
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12536.s1
4.9
F
Control (matched sibling)
NA
NA
18136081
18168870
32790
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
asadollahi_14_NDD_discovery_cases-case59700
MLPA
Maternal
Unknown
Unknown
GTPBP3,CCDC194,BST2,TMEM221,NXNL1,DDA1,ANO8,PLVAP,BISPR,SLC27A1,PGLS,FAM129C,MVB12A,COLGALT1
brandler_18_ASD_replication_cases-caseSSC10693
No validation step reported
Paternal
JAK3
gai_11_ASD_replication_cases-AU015004
Inherited
UNC13A
gazzellone_14_ASD_discovery_cases-case556-3
Unknown
Unknown
Unknown
CCDC194,BST2,TMEM221,NXNL1,BISPR,SLC27A1,PGLS,FAM129C,MVB12A,COLGALT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004223
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ISYNA1,FKBP8,UBA52,REX1BD,RN7SL155P,SSBP4,KXD1,CRLF1,KLHL26,ELL,TMEM59L,CRTC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005286
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP468,RPS18P13,IFI30,MPV17L2,JUND,MIR3188,RPL39P38,RN7SL513P,MIR3189,LRRC25,ISYNA1,CCDC124,ARRDC2,MAST3,PIK3R2,RAB3A,IQCN,LSM4,GDF15,SSBP4,KCNN1,IL12RB1,PDE4C,PGPEP1,ELL
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005377
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SL146P,CALR3,CHERP,SLC35E1,MED26,TMEM38A,C19orf44,SMIM7
krumm_13_ASD_discovery_cases-case11298.p1
Maternal
Simplex
Segregated
CRLF1
krumm_15_ASD_discovery_cases-case11001.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MPV17L2,RAB3A
krumm_15_ASD_discovery_cases-case11025.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11093.p1
Illumina 1M
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11121.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MPV17L2,RAB3A
krumm_15_ASD_discovery_cases-case11176.p1
Illumina 1M
Maternal
Simplex
Segregated
MPV17L2,RAB3A
krumm_15_ASD_discovery_cases-case11193.p1
Illumina 1M
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11200.p1
Illumina 1M
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11215.p1
Illumina 1M
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11349.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11441.p1
Illumina 1M
Maternal
Simplex
Not segregated (CNV in unaffected sibling)
MPV17L2,RAB3A
krumm_15_ASD_discovery_cases-case11450.p1
Illumina 1M
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11470.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11644.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11766.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case11846.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case12076.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case12137.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case12233.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case12360.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case12361.p1
Illumina 1MDuo
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case12407.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case12594.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
COPE
krumm_15_ASD_discovery_cases-case12775.p1
1M-Duov3
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case12967.p1
1M-Duov3
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case13031.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case13038.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case13039.p1
Illumina 1MDuo
Paternal
Simplex
Segregated
MPV17L2,RAB3A
krumm_15_ASD_discovery_cases-case13171.p1
Illumina 1MDuo
De novo
Simplex
Segregated
CALR3,C19orf44
krumm_15_ASD_discovery_cases-case13573.p1
1M-Duov3
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case13575.p1
1M-Duov3
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case13606.p1
1M-Duov3
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case13628.p1
1M-Duov3
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case13782.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case13821.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case14082.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case14116.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case14195.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case14443.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
krumm_15_ASD_discovery_cases-case14475.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
GTPBP3,ANO8
kushima_18_ASD_discovery_cases-caseASD1072
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
Unknown
Unknown
UNC13A
kushima_22_ASD_discovery_cases-caseASD1072
qRT-PCR
Unknown
UNC13A
larson_17_ASD_discovery_cases-case2
Unknown
Simplex
Unknown
MIR640,MAU2,GATAD2A
latypova_21_ASD/ADHD/DD/ID_discovery_cases-case1
De novo
RN7SL835P,RN7SL823P,OCEL1,GTPBP3,CCDC194,BST2,TMEM221,NXNL1,SIN3B,F2RL3,HAUS8,USE1,NR2F6,USHBP1,BABAM1,ANKLE1,DDA1,ANO8,PLVAP,BISPR,SLC27A1,PGLS-DT,PGLS,NIBAN3,UNC13A,MAP1S,FCHO1,CPAMD8,MYO9B,ABHD8,MRPL34,MVB12A,COLGALT1,NWD1
latypova_21_ASD/ADHD/DD/ID_discovery_cases-case3
De novo
RN7SL146P,RN7SL835P,RN7SL823P,OCEL1,GTPBP3,CALR3,CHERP,SLC35E1,MED26,TMEM38A,SIN3B,F2RL3,HAUS8,USE1,NR2F6,USHBP1,BABAM1,ANKLE1,DDA1,ANO8,PLVAP,C19orf44,SMIM7,CPAMD8,MYO9B,ABHD8,MRPL34,NWD1
latypova_21_ASD/ADHD/DD/ID_discovery_cases-case4
De novo
RN7SL146P,RN7SL835P,RN7SL823P,CALR3,CHERP,SLC35E1,MED26,TMEM38A,SIN3B,F2RL3,HAUS8,USE1,EPS15L1,C19orf44,SMIM7,CPAMD8,MYO9B,NWD1
latypova_21_ASD/ADHD/DD/ID_discovery_cases-case5
De novo
RN7SL835P,RN7SL823P,CHERP,SLC35E1,MED26,TMEM38A,SIN3B,F2RL3,SMIM7,CPAMD8,NWD1
nord_11_ASD_discovery_cases-256-1
Maternal
BST2
poultney_13_ASD_discovery_cases-case04HI3540A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GTPBP3,ANO8
poultney_13_ASD_discovery_cases-case05HI3589A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GTPBP3,ANO8
poultney_13_ASD_discovery_cases-case05HI3863A
Unknown
Unknown (likely multiplex/AGRE)
Unknown
GTPBP3,ANO8
prasad_12_ASD_discovery_cases-case121851
Unknown
Unknown
Unknown
HAUS8
prasad_12_ASD_discovery_cases-case154267L
qPCR
Paternal
Simplex
Not segregated (duplication present in unaffected sibling)
RAB3A,MPV17L2
prasad_12_ASD_discovery_cases-case62251L
Unknown
Unknown
Unknown
NR2F6,OCEL1
prasad_12_ASD_discovery_cases-case66673
qPCR
Maternal
Multiplex
Not segregated (duplication present in unaffected sibling)
RAB3A,MPV17L2
sajan_13_ACC/CBLH/PMG_discovery_cases-case1599-0
qPCR (CNV not detected)
Bi-parental
Unknown
Unknown
MYO9B
sanders_11_ASD_discovery_cases-11277.p1
Both parents
Simplex (quad-proband matched)
Segregated
MPV17L2,RAB3A
sanders_11_ASD_discovery_cases-11441.p1
Maternal
Simplex (quad-proband matched)
Not segregated
MPV17L2,RAB3A
sanders_11_ASD_discovery_cases-11499.p1
Maternal
Simplex (quad-proband matched)
Not segregated
GTPBP3,ANO8
sanders_11_ASD_discovery_cases-12250.p1
Both parents
Simplex (quad-proband matched)
Not segregated
GTPBP3
sanders_11_ASD_discovery_cases-12405.p1
Maternal
Simplex (trio)
NA
MPV17L2,RAB3A
sanders_11_ASD_discovery_cases-12515.p1
Unknown
Simplex (quad-proband matched)
Not segregated
MAST3,PIK3R2
sanders_11_ASD_discovery_cases-13039.p1
Paternal
Simplex (quad-proband matched)
Segregated
MPV17L2,RAB3A
sanders_11_ASD_discovery_cases-13323.p1
Unknown
Simplex (trio)
NA
MAST3,PIK3R2
wang_18_TS_discovery_cases-caseM_Gre_53.p1
qPCR
De novo
MIR640,NDUFA13,PHF5CP,TSSK6,CILP2,PBX4,LPAR2,GATAD2A,YJEFN3
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_901073_901073
Unknown
NDUFA13,CILP2,PBX4,YJEFN3
krumm_13_ASD_discovery_controls-control12838.s1
Confirmed by manual inspection
Maternal
Simplex
COPE,DDX49
krumm_15_ASD_discovery_controls-control11121.s1
Illumina 1M
Maternal
IFI30,MPV17L2,RAB3A
krumm_15_ASD_discovery_controls-control11152.s1
Illumina 1M
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control11252.s1
Illumina 1M
Maternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control11336.s1
Illumina 1M
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control11349.s1
Illumina 1M
Maternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control11421.s1
Illumina 1M
Maternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control11441.s1
Illumina 1M
Maternal
IFI30,MPV17L2,RAB3A
krumm_15_ASD_discovery_controls-control11450.s1
Illumina 1M
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control11615.s1
Illumina 1MDuo
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control11766.s1
Illumina 1MDuo
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control11868.s1
Illumina 1MDuo
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control12360.s1
Illumina 1MDuo
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control12361.s1
Illumina 1MDuo
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control12526.s1
1M-Duov3
Maternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control12534.s1
Illumina 1MDuo
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control12597.s1
Illumina 1MDuo
Paternal
MPV17L2,RAB3A
krumm_15_ASD_discovery_controls-control12657.s1
Illumina 1MDuo
Maternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control12838.s1
Illumina 1MDuo
Maternal
DDX49
krumm_15_ASD_discovery_controls-control13403.s1
Omni2.5-4v1
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control13507.s1
1M-Duov3
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control13653.s1
Omni2.5-4v1
Maternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control13835.s1
Omni2.5-4v1
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control13991.s1
Omni2.5-4v1
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control14030.s1
Omni2.5-4v1
Paternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control14423.s1
Omni2.5-4v1
Maternal
GTPBP3,ANO8
krumm_15_ASD_discovery_controls-control14443.s1
Omni2.5-4v1
Paternal
GTPBP3,ANO8,PLVAP
levy_11_ASD_discovery_controls-11498.s1
Maternal
Simplex
NA
ZNF14,LINC00663
poultney_13_ASD_discovery_controls-control04C31069A
Unknown
GTPBP3,ANO8
poultney_13_ASD_discovery_controls-control04C36900A
Unknown
GTPBP3,ANO8
poultney_13_ASD_discovery_controls-control05C42628A
Unknown
GTPBP3,ANO8
poultney_13_ASD_discovery_controls-control05C43337
Unknown
GTPBP3,ANO8
sanders_11_ASD_discovery_controls-11038.s1
Unknown
Simplex (quad)
NA
MAST3,PIK3R2
sanders_11_ASD_discovery_controls-11441.s1
Maternal
Simplex (quad)
NA
MPV17L2,RAB3A
sanders_11_ASD_discovery_controls-11498.s1
Maternal
Simplex (quad)
NA
ZNF14,LINC00663
sanders_11_ASD_discovery_controls-12239.s1
Paternal
Simplex (quad)
NA
INSL3
sanders_11_ASD_discovery_controls-12515.s1
Unknown
Simplex (quad)
NA
MAST3,PIK3R2
sanders_11_ASD_discovery_controls-12536.s1
Unknown
Simplex (quad)
NA
MAST3,PIK3R2
No Animal Model Data Available