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1q25.3CNV Type: Deletion-Duplication


Largest CNV size: 234642 bp

Statistics Box:
Number of Reports: 18


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
De novo rates and selection of large copy number variation.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Deletion-Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion
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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brand_15_ASD_discovery_cases
 ASD cases who had been previously been screened by CNVs by CMA as part of the Simons Simplex Collection (SSC) in Sanders et al., 2011
 259
 Diagnosis of ASD
 N/A
 N/A
 240913
 0
 1
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 554
 2
 0
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 70573
 2
 1
 3
 girirajan_13a_ASD_discovery_cases
 1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
 2588
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 NA
 NA
 424000
 0
 1
 1
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 302483
 1
 0
 1
 itsara_10_ASD_discovery_cases
 ASD probands from multiplex (n=1270) and simplex (n=60) families from AGRE collection
 1330
 ASD: Autism, broad spectrum autism (Spectrum), or NQA (not quite autism)
 
 
 156140
 1
 0
 1
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 842033
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 32257
 0
 3
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 220242
 0
 11
 11
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 226000
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 234642
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
 Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
 57365
 Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
 N/A
 N/A
 N/A
 9
 3
 12
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 37984
 0
 1
 1
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 44779
 1
 0
 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)
 32261
 0
 2
 2
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 24014
 2
 1
 3
 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
 227185
 1
 4
 5
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 52773
 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
 276255
 1
 8
 9
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 0
 0
 0
 0
 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
 32257
 1
 2
 3
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 220242
 1
 4
 5
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 234642
 0
 1
 1
 nguyen_13_DD/ID/MCA/ASD_discovery_controls
 Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
 20474
 Control
 N/A
 N/A
 N/A
 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)
 32261
 0
 2
 2
 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)
 24014
 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.
 
 227185
 5
 2
 7
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 52773
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brand_15_ASD_discovery_cases
  N/A
 Long-insert WGS
  Long-insert whole genome sequencing
 LUMPY, cn.MOPS, SV classifier
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 itsara_10_ASD_discovery_cases
 
 Solid phase hybridization
  Illumina HumanHap550v1 and v3 SNP array
 HMM
 Illumina GenomeStudio
 aCGH (custom NimbleGen 12 X 135)
 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)
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases
  N/A
 aCGH
  SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
 
 
 N/A
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 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
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  nguyen_13_DD/ID/MCA/ASD_discovery_controls
  N/A
  N/A
  N/A
 
 
  N/A
  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
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brand_15_ASD_discovery_cases-case17
 N/A
 N/A
 ASD
 Long-insert WGS identified a dupINVdup involving chromosome 1 in this case. Duplication previously identified by aCGH (chr1:183594279-183821464; hg19).
 
 183615895
 183856809
  240915
 GRCh38
 Duplication
 No
  celestino-soper_11_ASD_discovery_cases-11075
 NA
 M
 ASD
 NA
 NA
 184716830
 184716966
  137
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11455
 NA
 M
 ASD
 NA
 NA
 182390889
 182391443
  555
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13073_863
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 183332976
 183403549
  70574
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case13219_2413
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 182572946
 182631716
  58771
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1323_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 181881645
 181926423
  44779
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-14297.p1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
 N/A
 184734243
 185154245
  420003
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-8405102790
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 181282366
 181584849
  302484
 GRCh38
 Deletion
 No
  itsara_10_ASD_discovery_cases-HI4117
 NA
 NA
 Autism
 NA
 NA
 181874448
 182030588
  156141
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002695
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 183828804
 184670837
  842034
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case11715.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11715. SRS score of 90.
 Full-scale IQ (FSIQ) score of 96.
 185128668
 185160925
  32258
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12313.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 12313. SRS score of 90.
 Full-scale IQ (FSIQ) score of 115.
 185128668
 185160925
  32258
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13590.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13590. SRS score of 90.
 Full-scale IQ (FSIQ) score of 86.
 185128668
 185160925
  32258
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11488.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 183627531
 183847774
  220244
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11715.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 185128668
 185151935
  23268
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12313.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 185128668
 185160925
  32258
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12667.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 185128668
 185151935
  23268
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13279.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 183563194
 183590329
  27136
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13302.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 185128668
 185160925
  32258
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13376.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 182852232
 182929752
  77521
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13655.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 185128668
 185160925
  32258
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13711.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 185128668
 185151935
  23268
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14125.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 185124943
 185150492
  25550
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14333.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 185128668
 185160925
  32258
 GRCh38
 Duplication
 Yes
  lesca_12_EP_discovery_cases-case029a
 NA
 M
 Epilepsy
 Phenotype: LKS-woESES. Seizure Characteristics: Awake, nocturnal. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 77, performance IQ 54 (at 8.5 years of age).
 183625397
 183851656
  226260
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11488.p1
 NA
 M
 ASD
 NA
 NA
 183619855
 183854497
  234643
 GRCh38
 Duplication
 No
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient131
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient132
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient133
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient134
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient135
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient136
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient137
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient138
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient139
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Deletion
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient140
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient141
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 N/A
  nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient142
 N/A
 N/A
 DD/ID/MCA
 N/A
 N/A
 N/A
 N/A
  N/A
 GRCh37
 Duplication
 N/A
  o'roak_12_ASD_discovery_cases-case12667.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo DNAJB9 missense mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 49
 185128668
 185166652
  37985
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1323_3
 NA
 M
 ASD
 NA
 NA
 181881645
 181926423
  44779
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case00HI1228A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU063004; NDAR ID NDAR_INVDY126BYH)
 
 185128667
 185160927
  32261
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case00HI1252A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU061103; NDAR ID NDAR_INVCV125NHC)
 
 185128667
 185160927
  32261
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case139147
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 180732932
 180742412
  9481
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-caseL051
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 179248555
 179264183
  15629
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-caseL384
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 179250347
 179274360
  24014
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11038.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 82; verbal IQ, 67
 184708330
 184741044
  32715
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11488.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 80
 183625144
 183852330
  227187
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
 185133981
 185154498
  20518
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12313.p1
 11.8
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 114
 185133981
 185159118
  25138
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12667.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 49; verbal IQ, 19
 185133981
 185154498
  20518
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case43
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 180363552
 180416324
  52773
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB482418_1007872216
  N/A
  N/A
  Control
  No previous psychiatric history
 
  185126668
  185159118
  32451
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB750173_1007853324
  N/A
  N/A
  Control
  No previous psychiatric history
 
  180451136
  180587715
  136580
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB884197_1007844957
  N/A
  N/A
  Control
  No previous psychiatric history
 
  185100711
  185171530
  70820
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB895747_1007854713
  N/A
  N/A
  Control
  No previous psychiatric history
 
  185332598
  185406834
  74237
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB917428_1007845364
  N/A
  N/A
  Control
  No previous psychiatric history
 
  181881645
  181926423
  44779
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900299_900299
  N/A
  N/A
  Control
  No previous psychiatric history
 
  183159136
  183206865
  47730
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900306_900306
  N/A
  N/A
  Control
  No previous psychiatric history
 
  185123088
  185158528
  35441
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
  N/A
  N/A
  Control
  No previous psychiatric history
 
  183949686
  184225941
  276256
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901151_901151
  N/A
  N/A
  Control
  No previous psychiatric history
 
  183949027
  184219293
  270267
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11715.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11715. SRS score of 40.
 
  185128668
  185160925
  32258
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control12161.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12161. SRS score of 44.
 
  182581224
  182586806
  5583
  GRCh38
  Deletion
  Yes
  krumm_13_ASD_discovery_controls-control13590.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13590. SRS score of 36.
 
  185137605
  185151935
  14331
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11488.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  183627531
  183847774
  220244
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11715.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  185128668
  185151935
  23268
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12161.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  182581224
  182586806
  5583
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control13302.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  185128668
  185151935
  23268
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14125.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  185128668
  185150492
  21825
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11488.s1
  NA
  M
  Control
  NA
  NA
  183619855
  183854497
  234643
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C35887A
  N/A
  M
  Control
  NIMH Control (NIMH ID 74760)
 
  185128667
  185150494
  21828
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C35890A
  N/A
  F
  Control
  NIMH Control (NIMH ID 92614)
 
  185128667
  185160927
  32261
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11088.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  184689178
  184763135
  73958
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11094.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  185491435
  185494358
  2924
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11357.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  184692508
  184741044
  48537
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11488.s1
  7.7
  M
  Control (matched sibling)
  NA
  NA
  183625144
  183852330
  227187
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12161.s1
  7.7
  F
  Control (matched sibling)
  NA
  NA
  182579884
  182594927
  15044
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12667.s1
  19.3
  M
  Control (matched sibling)
  NA
  NA
  185133981
  185151470
  17490
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13303.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  185168496
  185207263
  38768
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brand_15_ASD_discovery_cases-case17
 
 
 Maternal
 Simplex
 Unknown
 APOBEC4,ARPC5,RGL1
 
 celestino-soper_11_ASD_discovery_cases-11075
 
 
 Unknown
 Simplex
 NA
 EDEM3
 
 celestino-soper_11_ASD_discovery_cases-11455
 
 
 Unknown
 Simplex
 NA
 GLUL
 
 engchuan_15_ASD_discovery_cases-case13073_863
 
 
 Unknown
 
 
 NMNAT2
 
 engchuan_15_ASD_discovery_cases-case13219_2413
 
 
 Unknown
 
 
 RGS16,LINC01686,RNASEL
 
 engchuan_15_ASD_discovery_cases-case1323_3
 
 
 Unknown
 
 
 
 
 girirajan_13a_ASD_discovery_cases-14297.p1
 
 
 Unknown
 Simplex
 Unknown
 RNU7-13P,RNA5SP72,FTH1P25,EDEM3,LINC01633,TRMT1L,FAM129A,RNF2
 
 girirajan_13b_ASD_discovery_cases-8405102790
 
 
 Unknown
 Unknown
 Unknown
 CACNA1E
 
 itsara_10_ASD_discovery_cases-HI4117
 aCGH (custom NimbleGen 12 X 135)
 
 De novo
 Multiplex
 
 
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002695
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RN7SL654P,TSEN15,RGL1,COLGALT2,C1orf21
 
 krumm_13_ASD_discovery_cases-case11715.p1
 
 
 Paternal
 Simplex
 Not segregated
 TRMT1L,SWT1
 
 krumm_13_ASD_discovery_cases-case12313.p1
 
 
 Maternal
 Simplex
 Segregated
 TRMT1L,SWT1
 
 krumm_13_ASD_discovery_cases-case13590.p1
 
 
 Maternal
 Simplex
 Not segregated
 TRMT1L,SWT1
 
 krumm_15_ASD_discovery_cases-case11488.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 APOBEC4,ARPC5,RGL1
 
 krumm_15_ASD_discovery_cases-case11715.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRMT1L
 
 krumm_15_ASD_discovery_cases-case12313.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 TRMT1L,SWT1
 
 krumm_15_ASD_discovery_cases-case12667.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 TRMT1L
 
 krumm_15_ASD_discovery_cases-case13279.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 NCF2,SMG7
 
 krumm_15_ASD_discovery_cases-case13302.p1
 1M-Duov3
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRMT1L,SWT1
 
 krumm_15_ASD_discovery_cases-case13376.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SHCBP1L,DHX9
 
 krumm_15_ASD_discovery_cases-case13655.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TRMT1L,SWT1
 
 krumm_15_ASD_discovery_cases-case13711.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 TRMT1L
 
 krumm_15_ASD_discovery_cases-case14125.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 TRMT1L
 
 krumm_15_ASD_discovery_cases-case14333.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 TRMT1L,SWT1
 
 lesca_12_EP_discovery_cases-case029a
 qPCR
 
 Unknown (not maternal)
 Unknown
 Unknown
 APOBEC4,ARPC5,RGL1
 
 levy_11_ASD_discovery_cases-11488.p1
 
 
 Maternal
 Simplex
 Not segregated
 APOBEC4,ARPC5,RGL1
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient131
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient132
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient133
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient134
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient135
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient136
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient137
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient138
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient139
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient140
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient141
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 nguyen_13_DD/ID/MCA/ASD_discovery_cases-patient142
 
 
 Unknown
 Unknown
 Unknown
 Minimum CNV gene content: SMG7
 
 o'roak_12_ASD_discovery_cases-case12667.p1
 aCGH, Sanger sequencing
 
 Maternal
 Simplex (quad)
 Unknown
 TRMT1L,SWT1
 
 pinto_10_ASD_discovery_cases-case1323_3
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 
 
 poultney_13_ASD_discovery_cases-case00HI1228A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TRMT1L,SWT1
 
 poultney_13_ASD_discovery_cases-case00HI1252A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 TRMT1L,SWT1
 
 prasad_12_ASD_discovery_cases-case139147
 
 
 Unknown
 Unknown
 Unknown
 RGSL1
 
 prasad_12_ASD_discovery_cases-caseL051
 
 
 Unknown
 Unknown
 Unknown
 STX6
 
 prasad_12_ASD_discovery_cases-caseL384
 
 
 Unknown
 Unknown
 Unknown
 MR1,STX6
 
 sanders_11_ASD_discovery_cases-11038.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 EDEM3
 
 sanders_11_ASD_discovery_cases-11488.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 APOBEC4,ARPC5,RGL1
 
 sanders_11_ASD_discovery_cases-11715.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 TRMT1L
 
 sanders_11_ASD_discovery_cases-12313.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TRMT1L,SWT1
 
 sanders_11_ASD_discovery_cases-12667.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 TRMT1L
 
 yin_16_ASD_discovery_cases-case43
 
 
 Unknown
 Unknown
 Unknown
 ACBD6
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB482418_1007872216
 
 
  Unknown
 
 
  TRMT1L,SWT1
 
engchuan_15_ASD_discovery_controls-controlB750173_1007853324
 
 
  Unknown
 
 
  OVAAL,ACBD6
 
engchuan_15_ASD_discovery_controls-controlB884197_1007844957
 
 
  Unknown
 
 
  RPL22P24,TRMT1L,RNF2,SWT1
 
engchuan_15_ASD_discovery_controls-controlB895747_1007854713
 
 
  Unknown
 
 
  GS1-279B7.1
 
engchuan_15_ASD_discovery_controls-controlB917428_1007845364
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900299_900299
 
 
  Unknown
 
 
  LAMC2
 
engchuan_15_ASD_discovery_controls-controlHABC_900306_900306
 
 
  Unknown
 
 
  TRMT1L,SWT1
 
engchuan_15_ASD_discovery_controls-controlHABC_900894_900894
 
 
  Unknown
 
 
  TSEN15,COLGALT2
 
engchuan_15_ASD_discovery_controls-controlHABC_901151_901151
 
 
  Unknown
 
 
  TSEN15,COLGALT2
 
krumm_13_ASD_discovery_controls-control11715.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  TRMT1L,SWT1
 
krumm_13_ASD_discovery_controls-control12161.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  RNASEL
 
krumm_13_ASD_discovery_controls-control13590.s1
 
 
  Maternal
  Simplex
 
  TRMT1L
 
krumm_15_ASD_discovery_controls-control11488.s1
  Illumina 1M
 
  Maternal
 
 
  APOBEC4,ARPC5,RGL1
 
krumm_15_ASD_discovery_controls-control11715.s1
  Illumina 1MDuo
 
  Paternal
 
 
  TRMT1L
 
krumm_15_ASD_discovery_controls-control12161.s1
  Illumina 1MDuo
 
  Maternal
 
 
  RNASEL
 
krumm_15_ASD_discovery_controls-control13302.s1
  1M-Duov3
 
  Paternal
 
 
  TRMT1L
 
krumm_15_ASD_discovery_controls-control14125.s1
  Omni2.5-4v1
 
  Paternal
 
 
  TRMT1L
 
levy_11_ASD_discovery_controls-11488.s1
 
 
  Maternal
  Simplex
  NA
  APOBEC4,ARPC5,RGL1
 
poultney_13_ASD_discovery_controls-control04C35887A
 
 
  Unknown
 
 
  TRMT1L
 
poultney_13_ASD_discovery_controls-control04C35890A
 
 
  Unknown
 
 
  TRMT1L,SWT1
 
sanders_11_ASD_discovery_controls-11088.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EDEM3
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11357.s1
 
 
  Unknown
  Simplex (quad)
  NA
  EDEM3
 
sanders_11_ASD_discovery_controls-11488.s1
 
 
  Maternal
  Simplex (quad)
  NA
  APOBEC4,ARPC5,RGL1
 
sanders_11_ASD_discovery_controls-12161.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNASEL
 
sanders_11_ASD_discovery_controls-12667.s1
 
 
  Maternal
  Simplex (quad)
  NA
  TRMT1L
 
sanders_11_ASD_discovery_controls-13303.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPL22P24,SWT1
 

No Animal Model Data Available
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