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19p13.11CNV Type: Deletion-Duplication


Largest CNV size: 42459 bp

Statistics Box:
Number of Reports: 16



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

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

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
NA
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
 larson_17_ASD_discovery_cases
  NA NA
 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
 larson_17_ASD_discovery_controls
  NA NA
 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
 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
  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
  larson_17_ASD_discovery_cases-case2
  NA NA
 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
 
 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
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