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3p26.1CNV Type: Deletion-Duplication


Largest CNV size: 293151 bp

Statistics Box:
Number of Reports: 19



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Screening of 50 cypriot patients with autism spectrum disorders or autistic features using 400K custom array-CGH.
Deletion
Rare de novo deletion of metabotropic glutamate receptor 7 (GRM7) gene in a patient with autism spectrum disorder.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
NA
Deletion-Duplication

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
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
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 586284
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 137694
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 147487
 3
 2
 5
 feliciano_19_ASD_discovery_cases
 ASD probands from 457 families (418 simplex, 39 multiplex) from the SPARK cohort
 465
 All cases diagnosed with ASD
 Range of age at enrollment, 1.544.6 years
 80.86% Male
 542856
 1
 1
 2
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 108087
 3
 0
 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
 428000
 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
 809340
 0
 3
 3
 kousoulidou_13_ASD_discovery_cases
 Cypriot patients with ASD or autistic features
 50
 Children with preliminary diagnosis of ASD [reevaluated by clinical geneticist to rule out autistic-like syndromes and retested for ASD based on DSM-IV-TR and ICD-10 using Gilliam Autism Rating Scale-2 (GARS-2)]
 Range, 3-18 yrs.
 90% Male
 101400
 1
 0
 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
 187285
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 542855
 3
 2
 5
 liu_15b_ASD/DD_discovery_cases
 First child of healthy unrelated parents presenting with ASD and hyperactivity, from a cohort of 100 children with ASD (Autistic Training Center, Qilu Children's Hospital of Shandong University, Ji'nan, China)
 1
 Diagnosis of ASD according to DSM-IV criteria. Development evaluated via Gesell Developmental Observation-Revised (GDO-R)
 5 yrs.
 Male
 303000
 1
 0
 1
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 293151
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 22583
 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
 
 
 30608
 1
 0
 1
 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
 235280
 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
 268481
 59
 3
 62
 wenger_16_ASD_discovery_cases
 ASD cases with CNVs containing genes involved in the mGluR network from an initial cohort of 539 cases
 62
 ASD
 N/A
 N/A
 91275
 2
 0
 2
 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
 119956
 2
 0
 2
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  NA NA
 Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
 2691
 1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
 
 76.37% Male
 1737929
 1
 1
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 779867
 5
 5
 10
 gai_11_ASD_discovery_controls
 Samples recruited from visits conducted within CHOP healthcare network
 1775
 Controls: patients screened for having no chronic illness/health issues as well as autism
 Range, 3-18 yrs.
 
 N/A
 
 
 0
 gai_11_ASD_replication_controls
 Healthy individuals comprising the CHOP CNV resource
 2026
 Controls
 
 
 N/A
 
 
 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
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 21751
 2
 1
 3
 kousoulidou_13_ASD_discovery_controls
 Control cohort consisting of 50 normal participants (36% male) older than 30 years of age with at least two biological children with no mental, neurological, or developmental disorder; and 80 normal individuals having children with syndromic or nonsyndromic intellectual disability, developmental delay, or rare neurological syndromes.
 130
 Controls
 N/A
 N/A
 0
 0
 0
 0
 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
 187285
 1
 1
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 96754
 1
 1
 2
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 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)
 63713
 1
 0
 1
 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)
 235280
 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.
 
 322392
 35
 10
 45
 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
 119956
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 feliciano_19_ASD_discovery_cases
  N/A
 WES
  Illumina HumanCoreExome 550K
 
 CoNIFER, XHMM
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_13a_ASD_discovery_cases
  NA
 aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
 ADM-2
 Agilent Genomic Workbench
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 kousoulidou_13_ASD_discovery_cases
  Cyprus
 aCGH
  Agilent 400K custom array-CGH
 
 Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 qPCR
 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)
 liu_15b_ASD/DD_discovery_cases
  China
 Array SNP
  Affymetrix SNP 6.0
 
 Affymetrix Command Console v.3.1
 qRT-PCR
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 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
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 wenger_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina HumanHap 550 or Illumina Human610-Quad v1.0
 PennCNV
 
 None
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
  74.1% European
 Array SNP
  Affymetrix CytoScan HD
 
 Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
 RT-qPCR or WGS

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  gai_11_ASD_discovery_controls
  1005 European descent, 723 African descent, 47 Asian descent
  Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
  BeadStudio 3.0
  None
  gai_11_ASD_replication_controls
 
  Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
  BeadStudio 3.0
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  kousoulidou_13_ASD_discovery_controls
  Cyprus
  aCGH
  Agilent 400K custom array-CGH
 
  Agilent Feature Extraction 9.1, Nexus Copy Number 5.1
 
  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)
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  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
  brandler_18_ASD_replication_cases-caseSSC02077
 N/A
 M
 ASD
 Case from SSC_phase2 cohort
 
 4116828
 4703111
  586284
 GRCh38
 Deletion
 No
  davis_09_ASD_discovery_cases-AU005303
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: alopecia, areata. Family history: father with symptoms of OCD and ADHD
 
 5898845
 6036539
  137694
 Unknown
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case14012_220
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7963141
 8110628
  147488
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14057_990
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 8338031
 8387643
  49613
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3309_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 7162599
 7288830
  126232
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5003_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6164148
 6194755
  30608
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6161_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 5635620
 5700015
  64396
 GRCh38
 Deletion
 No
  feliciano_19_ASD_discovery_cases-caseSP0002235
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and have no reported mental health diagnoses.
 
 4303371
 4846226
  542856
 GRCh38
 Duplication
 No
  feliciano_19_ASD_discovery_cases-caseSP0013116
 N/A
 M
 ASD
 Family history: both parents are negative for ASD and have no reported mental health diagnoses.
 
 7298684
 7461723
  163040
 GRCh38
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1251302
 
 
 Autism
 
 
 7053179
 7144453
  91275
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1655301
 
 
 Autism
 
 
 7065422
 7172715
  107294
 Unknown
 Deletion
 No
  gai_11_ASD_discovery_cases-AU1655302
 
 
 Autism
 
 
 7064629
 7172715
  108087
 Unknown
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13134.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
 6443313
 6863313
  420001
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000168
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 6476154
 7285494
  809341
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004763
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 7285435
 7579379
  293945
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005381
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 7501915
 7755807
  253893
 GRCh38
 Duplication
 Yes
  kousoulidou_13_ASD_discovery_cases-patient8
 N/A
 M
 ASD
 High-functioning ASD. Normal speech, socially isolated from peers, exhibits stereotyped hand movements, reduced facial expressivity, emotional withdrawal, echolalia, psychomotor hyperactivity, and narrow interests. Family history: mother suffers from depression after being disabled due to an accident.
 
 6965143
 7086836
  121694
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11824.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11824. SRS score of 79.
 Full-scale IQ (FSIQ) score of 81.
 8537184
 8630929
  93746
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12588.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12588. SRS score of 85.
 Full-scale IQ (FSIQ) score of 106.
 7553121
 7740406
  187286
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11046.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4303370
 4846225
  542856
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11393.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 4303370
 4376389
  73020
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11824.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 8537184
 8633938
  96755
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12588.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 7553121
 7740406
  187286
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13391.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 8625541
 8633938
  8398
 GRCh38
 Duplication
 Yes
  liu_15b_ASD/DD_discovery_cases-case1
 5 yrs.
 M
 ASD
 Diagnosis of ASD according to DSM-IV criteria. Birth/neonatal history: born by normal vaginal delivery at term, birth weight of 3550 g. Developmental milestones: first words at age of 2 years, first phrase at age of 3.5 years; unable to speak sentences until age of 4 years; started walking at 16 months. Language and communication evaluation: appeared to neither answer questions nor take initiative communication with others, often repeated imitative languages; presented to avoid eye contact with people but not afraid of strangers or unfamiliar environments. Motor and musculoskeletal evaluation: uncontrollable hyperactivity with uncoordinated movement. Behavioral/psychiatric evaluation: stereotyped actions; uncontrollable hyperactivity with uncoordinated movement. EEG: normal. Hearing: Auditory Steady State Response (ASSR) normal. Dysmorphic features: none. Family history: first child of healthy unrelated parents.
 Developmental delay. Developmental evaluation using Gesell Developmental Observation-Revised (GDO-R) demonstrated language/cognition, adaption, motor skills, and personal-social interaction were significantly delayed; developmental quotient (DQ) from 30-53 and developmental age (DA) from 12.9 months for language/cognition to 23 months for motor skills (compared to chronological age of 43.6 months)
 7179403
 7482865
  303463
 GRCh38
 Deletion
 Yes
  marshall_08_ASD_discovery_cases-MM0210-004
 NA
 M
 ASD
 NA
 NA
 7940703
 8233854
  293152
 GRCh38
 Duplication
 Yes
  nord_11_ASD_discovery_cases-239-1
 
 
 ASD
 
 
 5869225
 5891807
  22583
 Unknown
 Duplication
 No
  pinto_10_ASD_discovery_cases-case5003_4
 NA
 M
 ASD
 NA
 NA
 6164148
 6194755
  30608
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case117525L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 6155051
 6179808
  24758
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case47376
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7957409
 8192688
  235280
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case78063
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 7047702
 7146137
  98436
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11030.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 103; verbal IQ, 98
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11080.p1
 5.1
 F
 ASD
 NA
 Full-scale IQ, 51; non-verbal IQ, 50; verbal IQ 66
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11087.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 86; verbal IQ 99
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 6177406
 6199059
  21654
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11134.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11164.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
 6604339
 6612373
  8035
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11206.p1
 6.1
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 40; verbal IQ, 32
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11223.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 106; verbal IQ 102
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11233.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 60; verbal IQ, 65
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11256.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 127; verbal IQ, 98
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11275.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 117; verbal IQ, 90
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11283.p1
 12
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 132; verbal IQ 84
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11303.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 110; verbal IQ, 102
 6877392
 6884128
  6737
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11327.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11432.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 117; verbal IQ, 111
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11458.p1
 16.4
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 106; verbal IQ, 126
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11473.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11483.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11497.p1
 6.5
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 102; verbal IQ, 109
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11506.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 92; verbal IQ, 82
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11524.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 116; verbal IQ, 109
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11536.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11563.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 101; verbal IQ, 110
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11578.p1
 5.1
 M
 ASD
 NA
 Full-scale IQ, 120; non-verbal IQ, 120; verbal IQ, 115
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11644.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11704.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 82; verbal IQ, 33
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11724.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 56; verbal IQ, 67
 6278464
 6287092
  8629
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11800.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 34; verbal IQ, 35
 7816361
 7986139
  169779
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11846.p1
 15.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 106; verbal IQ, 110
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11869.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 104; verbal IQ, 86
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11893.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 49; verbal IQ, 30
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11969.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 102; verbal IQ, 108
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12010.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 103; verbal IQ, 94
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12044.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 75; verbal IQ, 76
 6278464
 6287092
  8629
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12046.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 88; verbal IQ, 87
 7863380
 7870958
  7579
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12198.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 119; verbal IQ, 108
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12260.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
 6177406
 6197577
  20172
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12334.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12404.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 50; verbal IQ, 57
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12435.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 51; verbal IQ, 40
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12499.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 67; verbal IQ, 56
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12573.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 70; verbal IQ, 80
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12588.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 105; verbal IQ, 108
 7474458
 7742939
  268482
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12638.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 81; verbal IQ, 63
 6177406
 6197577
  20172
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12651.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 24; non-verbal IQ, 34; verbal IQ, 14
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12661.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
 6038216
 6064564
  26349
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12682.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 92
 6278464
 6287092
  8629
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12735.p1
 10.7
 M
 ASD
 NA
 Full-scale IQ, 55; non-verbal IQ, 53; verbal IQ, 59
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12792.p1
 7.5
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 107
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12796.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 72; verbal IQ, 68
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12809.p1
 5.6
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12851.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
 7326986
 7330232
  3247
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12864.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 67; non-verbal IQ, 65; verbal IQ, 81
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12957.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 92; verbal IQ, 113
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12997.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13014.p1
 16.2
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 103
 6610242
 6613274
  3033
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13033.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 67; verbal IQ, 43
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13042.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 79; verbal IQ, 85
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13053.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 49; verbal IQ, 25
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13072.p1
 15.5
 F
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
 6610242
 6612373
  2132
 GRCh38
 Deletion
 No
  wenger_16_ASD_discovery_cases-case36
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 7036492
 7127766
  91275
 GRCh38
 Deletion
 No
  wenger_16_ASD_discovery_cases-case54
 N/A
 N/A
 ASD
 Prior clinical diagnosis of genetic syndrome: n/a
 
 4604232
 4609817
  5586
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case94
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 3993607
 4000399
  6793
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case95
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 7454533
 7574488
  119956
 GRCh38
 Deletion
 No
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case195538
  NA NA
 N/A
 M
 Schizophrenia
 Primary diagnosis: schizophrenia. Additional phenotype(s): no additional phenotypes reported
 
 4376745
 4654053
  277309
 GRCh38
 Deletion
 Yes
  zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1452-003
  NA NA
 N/A
 M
 ASD
 Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
 
 5445750
 7183677
  1737928
 GRCh38
 Duplication
 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-control110036023695_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6159580
  6939447
  779868
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB107311_1007871675
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5713045
  5780312
  67268
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB565962_1007873333
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7847970
  8004008
  156039
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB660739_1007854149
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6286394
  6338602
  52209
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900216_900216
  N/A
  N/A
  Control
  No previous psychiatric history
 
  5783191
  5872572
  89382
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900308_900308
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6023042
  6055745
  32704
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900623_900623
  N/A
  N/A
  Control
  No previous psychiatric history
 
  7298477
  7426010
  127534
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901012_901012
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6884128
  6953739
  69612
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901032_901032
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6023042
  6360349
  337308
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902664_902664
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6666470
  6783047
  116578
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1710
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  6649648
  6654060
  4413
  Unknown
  Deletion
  No
  kanduri_15_ASD_discovery_controls-control_split1929
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  6322086
  6328081
  5996
  Unknown
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split968
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  5410364
  5432114
  21751
  Unknown
  Deletion
  No
  krumm_13_ASD_discovery_controls-control11824.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11824. SRS score of 68.
 
  8537184
  8633938
  96755
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12588.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12588. SRS score of 47.
 
  7553121
  7740406
  187286
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11393.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  4303370
  4376389
  73020
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11824.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  8537184
  8633938
  96755
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C31732A
  N/A
  M
  Control
  NIMH Control (NIMH ID 92367)
 
  8501937
  8565649
  63713
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11032.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  8043768
  8343248
  299481
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11086.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  6177406
  6199084
  21679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11106.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  5656723
  5898793
  242071
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11172.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6613274
  3033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11172.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  6278464
  6286394
  7931
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11212.s1
  19.2
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11233.s1
  4.7
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6613274
  3033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11316.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11329.s1
  6.9
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11357.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6613274
  3033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11381.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  7863380
  7870958
  7579
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11398.s1
  13.8
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11414.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6613274
  3033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11473.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6613274
  3033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11510.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11537.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  6278464
  6286394
  7931
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11580.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11863.s1
  8
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11894.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  6278464
  6287092
  8629
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11913.s1
  5.9
  F
  Control (matched sibling)
  NA
  NA
  6296150
  6320982
  24833
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11935.s1
  6.2
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11969.s1
  17.5
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6613274
  3033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12032.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12051.s1
  7.5
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12120.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  7863380
  7870958
  7579
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12198.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12220.s1
  16.1
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12235.s1
  6.7
  M
  Control (matched sibling)
  NA
  NA
  6278464
  6287092
  8629
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12303.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12303.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  6180739
  6503131
  322393
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12396.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  6280399
  6287092
  6694
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12409.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12409.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  6180739
  6503131
  322393
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12434.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12483.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12588.s1
  5.4
  M
  Control (matched sibling)
  NA
  NA
  7474458
  7761018
  286561
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12637.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  6177406
  6197577
  20172
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12661.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  6038216
  6064518
  26303
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12735.s1
  9.1
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6613274
  3033
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12867.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12871.s1
  17.4
  F
  Control (matched sibling)
  NA
  NA
  7363357
  7370043
  6687
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13021.s1
  7.3
  F
  Control (matched sibling)
  NA
  NA
  6610242
  6612373
  2132
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19.5
  F
  Control (matched sibling)
  NA
  NA
  6177406
  6197577
  20172
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-caseSSC02077
 No validation step reported
 
 De novo
 
 
 MRPS10P2,ITPR1-DT,SETMAR,ITPR1,SUMF1
 
 davis_09_ASD_discovery_cases-AU005303
 qPCR
 
 Paternal
 Multiplex
 Segregated
 0 genes (upstream of GRM7)
 
 engchuan_15_ASD_discovery_cases-case14012_220
 
 
 Unknown
 
 
 LMCD1-AS1
 
 engchuan_15_ASD_discovery_cases-case14057_990
 
 
 Unknown
 
 
 RNU4ATAC17P,LMCD1-AS1
 
 engchuan_15_ASD_discovery_cases-case3309_3
 
 
 Unknown
 
 
 GRM7
 
 engchuan_15_ASD_discovery_cases-case5003_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case6161_3
 
 
 Unknown
 
 
 
 
 feliciano_19_ASD_discovery_cases-caseSP0002235
 
 
 Maternal
 Simplex
 
 MRPS10P2,ITPR1-DT,SETMAR,EGOT,ITPR1,SUMF1
 null
 feliciano_19_ASD_discovery_cases-caseSP0013116
 
 
 Maternal
 Simplex
 
 GRM7
 null
 gai_11_ASD_discovery_cases-AU1251302
 
 
 Inherited
 
 
 GRM7 (intronic)
 
 gai_11_ASD_discovery_cases-AU1655301
 
 
 Inherited
 
 
 GRM7
 
 gai_11_ASD_discovery_cases-AU1655302
 
 
 Inherited
 
 
 GRM7
 
 girirajan_13a_ASD_discovery_cases-13134.p1
 
 
 Unknown
 Simplex
 Unknown
 MRPS36P1,GRM7-AS3,GRM7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000168
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MRPS36P1,GRM7-AS2,GRM7-AS3,GRM7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004763
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 GRM7-AS1,GRM7
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005381
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GRM7-AS1,GRM7
 
 kousoulidou_13_ASD_discovery_cases-patient8
 qPCR
 
 Maternal
 Unknown
 Unknown
 GRM7
 
 krumm_13_ASD_discovery_cases-case11824.p1
 
 
 Paternal
 Simplex
 Not segregated
 LMCD1,SSUH2,LMCD1-AS1
 
 krumm_13_ASD_discovery_cases-case12588.p1
 
 
 Maternal
 Simplex
 Not segregated
 GRM7-AS1,GRM7
 
 krumm_15_ASD_discovery_cases-case11046.p1
 Illumina 1M
 
 De novo
 Simplex
 Segregated
 MRPS10P2,ITPR1-DT,SETMAR,EGOT,ITPR1,SUMF1
 
 krumm_15_ASD_discovery_cases-case11393.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 SETMAR,SUMF1
 
 krumm_15_ASD_discovery_cases-case11824.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 LMCD1,SSUH2,LMCD1-AS1
 
 krumm_15_ASD_discovery_cases-case12588.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GRM7-AS1,GRM7
 
 krumm_15_ASD_discovery_cases-case13391.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 SSUH2
 
 liu_15b_ASD/DD_discovery_cases-case1
 qRT-PCR
 
 De novo
 Simplex
 Likely segregated
 GRM7
 
 marshall_08_ASD_discovery_cases-MM0210-004
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 LMCD1-AS1
 
 nord_11_ASD_discovery_cases-239-1
 
 
 Paternal
 
 
 0 genes
 
 pinto_10_ASD_discovery_cases-case5003_4
 Agilent1M
 
 maternal
 NA
 NA
 
 
 prasad_12_ASD_discovery_cases-case117525L
 
 
 Unknown
 Simplex
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case47376
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case78063
 
 
 Unknown
 Unknown
 Unknown
 GRM7
 
 sanders_11_ASD_discovery_cases-11030.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11080.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11087.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11164.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11206.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11223.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11233.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11256.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11275.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11283.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11303.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GRM7
 
 sanders_11_ASD_discovery_cases-11327.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11432.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11458.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11473.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11483.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11497.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11506.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11524.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11536.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11563.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11578.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11644.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11704.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11724.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11800.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 LMCD1-AS1
 
 sanders_11_ASD_discovery_cases-11846.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11869.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11893.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-11969.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12010.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12044.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12046.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12198.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12260.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12334.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12404.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12435.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12499.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12573.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12588.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GRM7-AS1,GRM7
 
 sanders_11_ASD_discovery_cases-12638.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12651.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12661.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12682.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12735.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12792.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12796.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12809.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12851.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GRM7
 
 sanders_11_ASD_discovery_cases-12864.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12957.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12997.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13014.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13033.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13042.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13053.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13072.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 wenger_16_ASD_discovery_cases-case36
 
 
 Unknown
 
 
 GRM7
 
 wenger_16_ASD_discovery_cases-case54
 
 
 Unknown
 
 
 ITPR1
 
 yin_16_ASD_discovery_cases-case94
 
 
 Unknown
 Unknown
 Unknown
 SUMF1
 
 yin_16_ASD_discovery_cases-case95
 
 
 Unknown
 Unknown
 Unknown
 GRM7-AS1,GRM7
 
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case195538
 RT-qPCR or WGS
 
 Maternal
 
 
 MRPS10P2,ITPR1-DT,ITPR1,SUMF1
 null
 zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case2-1452-003
 RT-qPCR or WGS
 
 Unknown
 
 
 MRPS36P1,GRM7-AS2,GRM7-AS3,GRM7
 null

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036023695_
 
 
  Unknown
 
 
  MRPS36P1,GRM7-AS2,GRM7-AS3,GRM7
 
engchuan_15_ASD_discovery_controls-controlB107311_1007871675
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB565962_1007873333
 
 
  Unknown
 
 
  LMCD1-AS1
 
engchuan_15_ASD_discovery_controls-controlB660739_1007854149
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900216_900216
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900308_900308
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900623_900623
 
 
  Unknown
 
 
  GRM7
 
engchuan_15_ASD_discovery_controls-controlHABC_901012_901012
 
 
  Unknown
 
 
  GRM7-AS2,GRM7
 
engchuan_15_ASD_discovery_controls-controlHABC_901032_901032
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902664_902664
 
 
  Unknown
 
 
  MRPS36P1,GRM7-AS3,GRM7
 
kanduri_15_ASD_discovery_controls-control_split1710
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4790(dist=1357708),GRM7(dist=248742)
 
kanduri_15_ASD_discovery_controls-control_split1929
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4790(dist=1030146),GRM7(dist=574721)
 
kanduri_15_ASD_discovery_controls-control_split968
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, MIR4790(dist=118424),GRM7(dist=1470688)
 
krumm_13_ASD_discovery_controls-control11824.s1
 
 
  Paternal
  Simplex
 
  LMCD1,SSUH2,LMCD1-AS1
 
krumm_13_ASD_discovery_controls-control12588.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  GRM7-AS1,GRM7
 
krumm_15_ASD_discovery_controls-control11393.s1
  Illumina 1MDuo
 
  Paternal
 
 
  SETMAR,SUMF1
 
krumm_15_ASD_discovery_controls-control11824.s1
  Illumina 1MDuo
 
  Paternal
 
 
  LMCD1,SSUH2,LMCD1-AS1
 
poultney_13_ASD_discovery_controls-control04C31732A
 
 
  Unknown
 
 
  LMCD1,LMCD1-AS1
 
sanders_11_ASD_discovery_controls-11032.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LMCD1-AS1
 
sanders_11_ASD_discovery_controls-11086.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11106.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11172.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11172.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11212.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11233.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11316.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11329.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11357.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11381.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11398.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11414.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11473.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11510.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11537.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11580.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11863.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11894.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11913.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11935.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11969.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12032.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12051.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12120.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12198.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12220.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12235.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12303.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12303.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12396.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12409.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12409.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12434.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12483.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12588.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GRM7-AS1,GRM7
 
sanders_11_ASD_discovery_controls-12637.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12661.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12735.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12867.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12871.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GRM7
 
sanders_11_ASD_discovery_controls-13021.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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