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19q13.32CNV Type: Deletion-Duplication


Largest CNV size: 247567 bp

Statistics Box:
Number of Reports: 13



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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion-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
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
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 51739
 1
 1
 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
 247566
 3
 5
 8
 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
 1225429
 3
 3
 6
 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
 52777
 2
 1
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 51775
 2
 3
 5
 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
 
 
 247567
 1
 2
 3
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 109147
 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)
 48894
 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
 249702
 5
 6
 11
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 97392
 0
 3
 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
 17636
 11
 0
 11
 wolfe_16_ID_discovery_cases
 Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
 202
 All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
 Mean age, 37 yrs. (range, 18-78 yrs.)
 63% Male
 1526397
 1
 0
 1
 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
 135545
 0
 1
 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
 149144
 0
 7
 7
 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
 50895
 2
 3
 5
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 52777
 2
 4
 6
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 65821
 0
 1
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 23122
 0
 1
 1
 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)
 48894
 0
 1
 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)
 24729
 0
 1
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 65316
 7
 2
 9
 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
 135545
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 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)
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 wolfe_16_ID_discovery_cases
  74% White British
 aCGH
  Nimblegen 135K
 
 
 qPCR, FISH, QF-PCR
 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
  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
 
 
  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_discovery_cases-caseSSC08732
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 44956665
 44958301
  1637
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseSSC09431
 N/A
 M
 ASD
 Case from SSC cohort
 
 47132664
 47184403
  51740
 GRCh38
 Duplication
 Yes
  engchuan_15_ASD_discovery_cases-case16097_1571153001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 47793971
 47903117
  109147
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3181_7
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 47272198
 47450914
  178717
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4150_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45535295
 45638795
  103501
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case4268_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 46193810
 46281358
  87549
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4296_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 47123808
 47171294
  47487
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4519_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 48105215
 48171099
  65885
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5397_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45334011
 45398041
  64031
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5443_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 45459541
 45707107
  247567
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000565
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45595873
 46600026
  1004154
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001288
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 46434490
 46831000
  396511
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001664
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 46458122
 47683579
  1225458
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002394
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45287256
 45734078
  446823
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004559
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 47751322
 47767410
  16089
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005116
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 45481858
 45710518
  228661
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11029.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 11029. SRS score of 90.
 Full-scale IQ (FSIQ) score of 29.
 44990849
 44992400
  1552
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case12840.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12840. SRS score of 90.
 Full-scale IQ (FSIQ) score of 54.
 45615801
 45616853
  1053
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case13116.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13116. SRS score of 90.
 Full-scale IQ (FSIQ) score of 35.
 45345541
 45398318
  52778
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case12636.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 47130929
 47143607
  12679
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13237.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 44914891
 44919230
  4340
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13287.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 45348645
 45398318
  49674
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13690.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 45346543
 45398318
  51776
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14075.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 44944748
 44945305
  558
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case3181_007
 NA
 M
 Autism
 No language delay, no dysmorphic features, height and weight 29th centiles, no epilepsy
 Above average IQ
 47272198
 47450914
  178717
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5108_3
 NA
 M
 ASD
 No language delay, no epilepsy, normal physical and neurological exams
 Average IQ
 52318905
 52334620
  15716
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5443_5
 NA
 M
 ASD
 NA
 NA
 45459541
 45707107
  247567
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case16097_1571153001
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 47793971
 47903117
  109147
 GRCh38
 Deletion
 Yes
  poultney_13_ASD_discovery_cases-case99HI0841A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU058504; NDAR ID NDAR_INVNN525TBD)
 
 45349427
 45398320
  48894
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-caseHI4823
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1644303; NDAR ID N/A)
 
 45350952
 45385730
  34779
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case100573L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 53585289
 53599014
  13726
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case100680L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 50652644
 50902345
  249702
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case121091
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 50303970
 50313671
  9702
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case124475
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 52315324
 52340052
  24729
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case44644
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 52315324
 52340052
  24729
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case45554
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 52315324
 52340052
  24729
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case47029
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 50993960
 51003348
  9389
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case51253
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 51737541
 51753164
  15624
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case82366
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 53589842
 53599014
  9173
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case85287L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 52415697
 52433151
  17455
 Unknown
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case90278
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 52315324
 52366182
  50859
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: yes.
 46251278
 46348669
  97392
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: possible diagnosis. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: Possibly mild.
 46225600
 46281358
  55759
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-069
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 46216389
 46281358
  64970
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11085.p1
 10.4
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 68; verbal IQ, 51
 46119519
 46123418
  3900
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11242.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 97; verbal IQ, 93
 45566781
 45573123
  6343
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11245.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 107; verbal IQ, 117
 46119100
 46123418
  4319
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11916.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 111; verbal IQ, 107
 46410492
 46416646
  6155
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12152.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 111; verbal IQ, 118
 46119519
 46123418
  3900
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12405.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 102; verbal IQ, 99
 48568499
 48569008
  510
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12701.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 77; verbal IQ, 74
 46455750
 46457709
  1960
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12739.p1
 6.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 112; verbal IQ, 77
 46119519
 46123418
  3900
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12761.p1
 5.4
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 109; verbal IQ, 89
 46119519
 46123418
  3900
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12832.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
 46068410
 46077896
  9487
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13226.p1
 8.7
 M
 ASD
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 85
 46263722
 46281358
  17637
 GRCh38
 Deletion
 No
  wolfe_16_ID_discovery_cases-DECIPHER327129
 58 yrs.
 F
 Intellectual disability and bipolar disorder
 Psychiatric history: bipolar disorder. Mini PAS-ADD evaluation: depression, psychosis. BPI-S evaluation: at least weekly aggressive/destructive behavior. Medical history: epilepsy, incontinence, cataracts, broad-based gait. Dysmorphic features: short upturned nose. Growth parameters: height 148 cm, head circumference 55 cm. Ethnicity: white (British).
 Mild intellectual disability
 45238482
 46764879
  1526398
 GRCh38
 Deletion
 Yes
  yin_16_ASD_discovery_cases-case556
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 46779587
 46915131
  135545
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB585761_1007853833
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45332725
  45398041
  65317
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB906859_1007845326
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45332725
  45389286
  56562
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900204_900204
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45327689
  45389286
  61598
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900507_900507
  N/A
  N/A
  Control
  No previous psychiatric history
 
  46496475
  46547902
  51428
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900830_900830
  N/A
  N/A
  Control
  No previous psychiatric history
 
  47776532
  47812422
  35891
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901044_901044
  N/A
  N/A
  Control
  No previous psychiatric history
 
  47751082
  47900226
  149145
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901075_901075
  N/A
  N/A
  Control
  No previous psychiatric history
 
  45356944
  45398041
  41098
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11029.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11029. SRS score of 41.
 
  44990849
  44992400
  1552
  GRCh38
  Deletion
  Yes
  krumm_13_ASD_discovery_controls-control11085.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11085. SRS score of 39.
 
  45345541
  45396436
  50896
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12840.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12840. SRS score of 39.
 
  45615801
  45616853
  1053
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control13116.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13116. SRS score of 42.
 
  45347446
  45398318
  50873
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control14201.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 14201. SRS score of 45.
 
  44780904
  44793620
  12717
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11085.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  45345541
  45398147
  52607
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12033.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  46775509
  46784559
  9051
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12447.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  45370532
  45380228
  9697
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13237.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  44914891
  44919230
  4340
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14075.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  44942277
  44945305
  3029
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control14187.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  45345541
  45398318
  52778
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-12239.s2
  NA
  M
  Control
  NA
  NA
  45332971
  45398791
  65821
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27275
 
 
  Control
 
 
  52315728
  52338849
  23122
  Unknown
  Duplication
 
  poultney_13_ASD_discovery_controls-control05C40311A
  N/A
  F
  Control
  NIMH Control (NIMH ID 33535)
 
  45349427
  45398320
  48894
  GRCh38
  Duplication
  No
  prasad_12_ASD_discovery_controls-control1
  NA
  NA
  Control
  NA
 
  52315324
  52340052
  24729
  Unknown
  Duplication
  No
  sanders_11_ASD_discovery_controls-11085.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  45332725
  45398041
  65317
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  48573769
  48580236
  6468
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11379.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  46263722
  46281358
  17637
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11400.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  44808490
  44810480
  1991
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12033.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  46783912
  46805409
  21498
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12152.s1
  6.8
  M
  Control (matched sibling)
  NA
  NA
  46119519
  46123418
  3900
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12231.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  46256322
  46284763
  28442
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12327.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  46119519
  46123418
  3900
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13226.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  46263722
  46281358
  17637
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseSSC08732
 PCR or SNP data validation
 
 Paternal
 
 
 CLPTM1
 
 brandler_18_ASD_discovery_cases-caseSSC09431
 SNP VCF
 
 De novo
 
 
 SAE1
 
 engchuan_15_ASD_discovery_cases-case16097_1571153001
 
 
 Unknown
 
 
 RPL23AP80,TPRX2P,LINC01595,TPRX1,SULT2A1,CRX
 
 engchuan_15_ASD_discovery_cases-case3181_7
 
 
 Unknown
 
 
 INAFM1,CCDC9,C5AR2,DHX34,MEIS3,C5AR1,SLC8A2
 
 engchuan_15_ASD_discovery_cases-case4150_1
 
 
 Unknown
 
 
 OPA3,GPR4,EML2
 
 engchuan_15_ASD_discovery_cases-case4268_1
 
 
 Unknown
 
 
 IGFL1P1,RPL12P41,IGFL1,IGFL1P2,IGFL2-AS1
 
 engchuan_15_ASD_discovery_cases-case4296_1
 
 
 Unknown
 
 
 SAE1
 
 engchuan_15_ASD_discovery_cases-case4519_1
 
 
 Unknown
 
 
 LIG1,ZSWIM9,PLA2G4C
 
 engchuan_15_ASD_discovery_cases-case5397_3
 
 
 Unknown
 
 
 PPP1R13L,KLC3,ERCC2
 
 engchuan_15_ASD_discovery_cases-case5443_5
 
 
 Unknown
 
 
 FOSB,RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,ERCC1,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,EML2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000565
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,SIX5,DM1-AS,DMWD,FOXA3,IRF2BP1,NANOS2,MIR769,IGFL1P1,RPL12P41,IGFL1,IGFL1P2,RNU6-924P,CCDC8,PNMA8C,PNMA8A,PNMA8B,GAPDHP38,OPA3,GPR4,GIPR,QPCTL,FBXO46,DMPK,RSPH6A,SYMPK,MYPOP,NOVA2,PGLYRP1,IGFL4,IGFL3,IGFL2,IGFL2-AS1,HIF3A,PPP5C,EML2,BHMG1,CCDC61,PPP5D1,TGIF1P1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001288
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 PNMA8A,PNMA8B,GAPDHP38,CALM3,PTGIR,GNG8,DACT3,RN7SL364P,MIR320E,HNRNPMP2,PRKD2,STRN4,FKRP,SLC1A5,PPP5D1,DACT3-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001664
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 PNMA8A,PNMA8B,GAPDHP38,CALM3,PTGIR,GNG8,DACT3,RN7SL364P,MIR320E,HNRNPMP2,TMEM160,BBC3,MIR3190,MIR3191,INAFM1,RN7SL322P,BICRA-AS1,PRKD2,STRN4,FKRP,SLC1A5,AP2S1,NPAS1,ZC3H4,CCDC9,C5AR2,DHX34,MEIS3,KPTN,NAPA-AS1,NAPA,ZNF541,BICRA,PPP5D1,DACT3-AS1,ARHGAP35,C5AR1,SLC8A2,SAE1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002394
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 RPS16P9,CD3EAP,MIR6088,FOSB,RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,CKM,PPP1R13L,ERCC1,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,FBXO46,KLC3,ERCC2,EML2,BHMG1,MARK4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004559
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 NOP53,SNORD23,NOP53-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005116
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,EML2
 
 krumm_13_ASD_discovery_cases-case11029.p1
 aCGH (Agilent SurePrint G3 4x180K)
 
 Maternal
 Simplex
 Not segregated
 CLPTM1
 
 krumm_13_ASD_discovery_cases-case12840.p1
 
 
 Maternal
 Simplex
 Not segregated
 EML2
 
 krumm_13_ASD_discovery_cases-case13116.p1
 
 
 Paternal
 Simplex
 Not segregated
 PPP1R13L,KLC3,ERCC2
 
 krumm_15_ASD_discovery_cases-case12636.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 SAE1
 
 krumm_15_ASD_discovery_cases-case13237.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 APOC1
 
 krumm_15_ASD_discovery_cases-case13287.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 PPP1R13L,KLC3,ERCC2
 
 krumm_15_ASD_discovery_cases-case13690.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 PPP1R13L,KLC3,ERCC2
 
 krumm_15_ASD_discovery_cases-case14075.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 APOC4,APOC4-APOC2
 
 pinto_10_ASD_discovery_cases-case3181_007
 nestedLR-PCR-Maternal
 
 maternal
 Simplex
 NA
 INAFM1,CCDC9,C5AR2,DHX34,MEIS3,C5AR1,SLC8A2
 
 pinto_10_ASD_discovery_cases-case5108_3
 qPCR
 
 paternal
 Multiplex
 Unknown
 SAE1 exonic
 
 pinto_10_ASD_discovery_cases-case5443_5
 Agilent1M
 
 maternal
 NA
 NA
 FOSB,RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,ERCC1,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,EML2
 
 pinto_14_ASD_discovery_cases2-case16097_1571153001
 qPCR
 
 Maternal
 Simplex
 Unknown (brother with ADHD not tested)
 RPL23AP80,TPRX2P,LINC01595,TPRX1,SULT2A1,CRX
 
 poultney_13_ASD_discovery_cases-case99HI0841A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PPP1R13L,KLC3,ERCC2
 
 poultney_13_ASD_discovery_cases-caseHI4823
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PPP1R13L,KLC3,ERCC2
 
 prasad_12_ASD_discovery_cases-case100573L
 
 
 Unknown
 Unknown
 Unknown
 KDELR1,GRIN2D
 
 prasad_12_ASD_discovery_cases-case100680L
 
 
 Unknown
 Unknown
 Unknown
 SNRPD2,GPR4,EML2,PPM1N,FOSB,MIR642B,RTN2,LOC100287177,MIR330,OPA3,MIR642A,QPCTL,VASP,GIPR
 
 prasad_12_ASD_discovery_cases-case121091
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case124475
 qPCR
 
 Unknown
 Simplex
 Segregated
 SAE1
 
 prasad_12_ASD_discovery_cases-case44644
 qPCR
 
 Paternal
 Multiplex
 Segregated
 SAE1
 
 prasad_12_ASD_discovery_cases-case45554
 qPCR
 
 Paternal
 Multiplex
 Segregated
 SAE1
 
 prasad_12_ASD_discovery_cases-case47029
 
 
 Unknown
 Unknown
 Unknown
 RSPH6A
 
 prasad_12_ASD_discovery_cases-case51253
 
 
 Unknown
 Unknown
 Unknown
 LOC100506012
 
 prasad_12_ASD_discovery_cases-case82366
 
 
 Unknown
 Unknown
 Unknown
 GRIN2D
 
 prasad_12_ASD_discovery_cases-case85287L
 qPCR
 
 Maternal
 Unknown
 Unknown
 BBC3,MIR3190,MIR3191
 
 prasad_12_ASD_discovery_cases-case90278
 
 
 Unknown
 Unknown
 Unknown
 SAE1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1303-0
 qPCR
 
 Unknown
 Unknown
 Unknown
 IGFL1P2,RNU6-924P,HIF3A,PPP5C
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-109
 qPCR
 
 Paternal
 Unknown
 Unknown
 IGFL1,IGFL1P2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-069
 qPCR
 
 Unknown
 Unknown
 Unknown
 RPL12P41,IGFL1,IGFL1P2
 
 sanders_11_ASD_discovery_cases-11085.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 IGFL3
 
 sanders_11_ASD_discovery_cases-11242.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 OPA3
 
 sanders_11_ASD_discovery_cases-11245.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 IGFL3
 
 sanders_11_ASD_discovery_cases-11916.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 CCDC8
 
 sanders_11_ASD_discovery_cases-12152.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 IGFL3
 
 sanders_11_ASD_discovery_cases-12405.p1
 
 
 Both parents
 Simplex (trio)
 NA
 SULT2B1
 
 sanders_11_ASD_discovery_cases-12701.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12739.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 IGFL3
 
 sanders_11_ASD_discovery_cases-12761.p1
 
 
 Maternal
 Simplex (trio)
 NA
 IGFL3
 
 sanders_11_ASD_discovery_cases-12832.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 IGFL4
 
 sanders_11_ASD_discovery_cases-13226.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 wolfe_16_ID_discovery_cases-DECIPHER327129
 qPCR, FISH, or QF-PCR
 
 Unknown
 Unknown
 Unknown
 RPS16P9,CD3EAP,MIR6088,FOSB,RTN2,MIR330,EML2-AS1,RN7SL836P,MIR642A,MIR642B,SNRPD2,SIX5,DM1-AS,DMWD,FOXA3,IRF2BP1,NANOS2,MIR769,IGFL1P1,RPL12P41,IGFL1,IGFL1P2,RNU6-924P,CCDC8,PNMA8C,PNMA8A,PNMA8B,GAPDHP38,CALM3,PTGIR,GNG8,DACT3,RN7SL364P,MIR320E,CKM,PPP1R13L,ERCC1,PPM1N,VASP,OPA3,GPR4,GIPR,QPCTL,FBXO46,DMPK,RSPH6A,SYMPK,MYPOP,NOVA2,PGLYRP1,IGFL4,IGFL3,IGFL2,IGFL2-AS1,HIF3A,PPP5C,PRKD2,STRN4,FKRP,EXOC3L2,KLC3,ERCC2,EML2,BHMG1,CCDC61,PPP5D1,DACT3-AS1,MARK4,TGIF1P1
 
 yin_16_ASD_discovery_cases-case556
 
 
 Unknown
 Unknown
 Unknown
 HNRNPMP2,SLC1A5,AP2S1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB585761_1007853833
 
 
  Unknown
 
 
  RPS16P9,PPP1R13L,KLC3,ERCC2
 
engchuan_15_ASD_discovery_controls-controlB906859_1007845326
 
 
  Unknown
 
 
  RPS16P9,PPP1R13L,KLC3,ERCC2
 
engchuan_15_ASD_discovery_controls-controlHABC_900204_900204
 
 
  Unknown
 
 
  RPS16P9,PPP1R13L,KLC3,ERCC2
 
engchuan_15_ASD_discovery_controls-controlHABC_900507_900507
 
 
  Unknown
 
 
  PNMA8B,PPP5D1
 
engchuan_15_ASD_discovery_controls-controlHABC_900830_900830
 
 
  Unknown
 
 
  SELENOW,RPL23AP80,TPRX1
 
engchuan_15_ASD_discovery_controls-controlHABC_901044_901044
 
 
  Unknown
 
 
  NOP53,SNORD23,SELENOW,RPL23AP80,TPRX2P,LINC01595,NOP53-AS1,TPRX1,SULT2A1,CRX
 
engchuan_15_ASD_discovery_controls-controlHABC_901075_901075
 
 
  Unknown
 
 
  PPP1R13L,ERCC2
 
krumm_13_ASD_discovery_controls-control11029.s1
  aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  CLPTM1
 
krumm_13_ASD_discovery_controls-control11085.s1
 
 
  Maternal
  Simplex
 
  PPP1R13L,KLC3,ERCC2
 
krumm_13_ASD_discovery_controls-control12840.s1
 
 
  Maternal
  Simplex
 
  EML2
 
krumm_13_ASD_discovery_controls-control13116.s1
 
 
  Paternal
  Simplex
 
  PPP1R13L,KLC3,ERCC2
 
krumm_13_ASD_discovery_controls-control14201.s1
 
 
  Paternal
  Simplex
 
  CBLC
 
krumm_15_ASD_discovery_controls-control11085.s1
  Illumina 1M
 
  Maternal
 
 
  PPP1R13L,KLC3,ERCC2
 
krumm_15_ASD_discovery_controls-control12033.s1
  Illumina 1MDuo
 
  Maternal
 
 
  FKRP,SLC1A5
 
krumm_15_ASD_discovery_controls-control12447.s1
  Illumina 1MDuo
 
  De novo
 
 
  PPP1R13L,ERCC2
 
krumm_15_ASD_discovery_controls-control13237.s1
  1M-Duov3
 
  Maternal
 
 
  APOC1
 
krumm_15_ASD_discovery_controls-control14075.s1
  Omni2.5-4v1
 
  Maternal
 
 
  APOC4,APOC4-APOC2
 
krumm_15_ASD_discovery_controls-control14187.s1
  Omni2.5-4v1
 
  Paternal
 
 
  PPP1R13L,KLC3,ERCC2
 
levy_11_ASD_discovery_controls-12239.s2
 
 
  Maternal
  Simplex
  NA
  RPS16P9,PPP1R13L,KLC3,ERCC2
 
nord_11_ASD_discovery_controls-04C27275
 
 
 
 
 
  SAE1
 
poultney_13_ASD_discovery_controls-control05C40311A
 
 
  Unknown
 
 
  PPP1R13L,KLC3,ERCC2
 
prasad_12_ASD_discovery_controls-control1
 
 
  Unknown
 
 
  SAE1
 
sanders_11_ASD_discovery_controls-11085.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RPS16P9,PPP1R13L,KLC3,ERCC2
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SULT2B1
 
sanders_11_ASD_discovery_controls-11379.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11400.s1
 
 
  Unknown
  Simplex (quad)
  NA
  BCAM
 
sanders_11_ASD_discovery_controls-12033.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SLC1A5
 
sanders_11_ASD_discovery_controls-12152.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IGFL3
 
sanders_11_ASD_discovery_controls-12231.s1
 
 
  Paternal
  Simplex (quad)
  NA
  IGFL1P2
 
sanders_11_ASD_discovery_controls-12327.s1
 
 
  Maternal
  Simplex (quad)
  NA
  IGFL3
 
sanders_11_ASD_discovery_controls-13226.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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