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3q23CNV Type: Deletion-Duplication


Largest CNV size: 352000 bp

Statistics Box:
Number of Reports: 18



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Duplication
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
High-resolution SNP genotyping platform identified recurrent and novel CNVs in autism multiplex families.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Clinical genetic testing for patients with autism spectrum disorders.
Deletion
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 alayadhi_16_ASD_discovery_cases
 ASD cases from 11 multiplex families referred to Autism Research and Treatment Center (ART) and Madinah Maternity and Children Hospital (MMCH)
 22
 All ASD cases met crtieria for autism on one or both diagnostic measures (ADI-R and ADOS), autism severity assessed using CARS-2
 N/A
 100% Male
 7276
 4
 0
 4
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 195694
 0
 1
 1
 girirajan_12_ASD/DD/ID_discovery_cases
 Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
 32587
 Developmental delay with or without congenital malformations
 
 
 727911
 0
 1
 1
 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
 45773
 0
 2
 2
 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
 1438243
 1
 1
 2
 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
 199745
 1
 3
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 199745
 0
 9
 9
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 34237
 0
 1
 1
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 171000
 0
 1
 1
 o'roak_12_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC), from an initial cohort of 189 autism families
 122
 ASD/autism
 NA
 NA
 261400
 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
 
 
 170532
 0
 2
 2
 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)
 271415
 0
 1
 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
 56418
 3
 1
 4
 quintela_17_DD/ID_discovery_cases
 Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
 573
 All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
 Range, 3 months-18 years
 60.38% Male
 645822
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 172496
 0
 1
 1
 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
 249312
 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
 264083
 2
 5
 7
 shen_10_ASD_discovery_cases
 Patients from original discovery case cohort that were subsequently used in chromosomal microarray analysis (CMA). Original discovery case cohort (n=933) was 80.9 % male and consisted of 461 patients recruited through Autism Consortium (AC) & 472 patients added through samples from Children's Hospital Boston DNA Diagnostic laboratory (CHB).
 848
 ASD (initial case cohort of 933 cases consisted of 447 patients diagnosed with autistic disorder, 454 with PDD-NOS, 31 with Asperger disorder, and 1 with CDD. AC Cohort: 54 patients with secondary diagnosis of mental retardation, 36 with seizures, and 16 with multiple congenital anomalies)
 
 
 352000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_12_ASD/DD/ID_discovery_controls
 Persons found to have no overt neurological disorders during screening for other studies
 8329
 Control
 
 
 727911
 NA
 NA
 NA
 girirajan_13a_ASD_discovery_controls1
 NIMH control cohort consisting of 207 DNA samples obtained from Rutgers Univ. Cell and DNA Repository, and 373 individuals from ClinSeq study of artherosclerotic disease
 580
 Control. Individuals from NIMH control cohort negative for DSM-IV criteria for major depression and history of bipolar disorder or psychosis.
 NA
 NA
 0
 0
 0
 0
 girirajan_13a_ASD_discovery_controls2
 Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
 2090
 Control
 NA
 NA
 0
 0
 0
 0
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 199745
 1
 5
 6
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 199745
 0
 7
 7
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 34237
 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)
 199749
 0
 5
 5
 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)
 56418
 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.
 
 264083
 4
 8
 12

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 alayadhi_16_ASD_discovery_cases
  Saudi
 Solid phase hybridization
  Illumina HumanOmni 2.5M
 CNVPartition v.3.2.0, Penn CNV
 Illumina GenomeStudio (Genotyping module v1.9.4, Genome Viewer v.1.9.0)
 qPCR
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 girirajan_12_ASD/DD/ID_discovery_cases
 
 aCGH
  BACs aCGH, SignatureChipOS
 
 
 FISH, aCGH, or confirmation by inheritance
 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
 aCGH (NimbleGen 135K array)
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 quintela_17_DD/ID_discovery_cases
  North West Spain
 Array SNP
  Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
 
 Affymetrix ChAS v.1.2.2
 None
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 shen_10_ASD_discovery_cases
 
 aCGH, array SNP
  Agilent 244A, Affymetrix NspI, Affymetrix SytI, Affymetrix 5.0
 BRLMM, CNAT4, Partek Genomic Suite
 CGH Analytics, DNA Analytics software
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_12_ASD/DD/ID_discovery_controls
 
  aCGH
  BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
 
 
 
  girirajan_13a_ASD_discovery_controls1
  NA
  aCGH
  Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
  ADM-2
  Agilent Genomic Workbench
  None
  girirajan_13a_ASD_discovery_controls2
  NA
  Solid phase hybridization
  Illumina 1.2M SNP microarray
 
 
  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
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  alayadhi_16_ASD_discovery_cases-caseAUT5-1
 N/A
 M
 Autism
 CARS score of 36.0; Social Responsiveness Scale (SRS) score of 79; Sensory profile score of 137.
 
 140572131
 140604862
  32732
 GRCh38
 Deletion
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT5-2
 N/A
 M
 Autism
 CARS score of 33.0; Social Responsiveness Scale (SRS) score of 80; Sensory profile score of 133.
 
 140572131
 140604862
  32732
 GRCh38
 Deletion
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT9-1
 N/A
 M
 Autism
 CARS score of 28.5; Social Responsiveness Scale (SRS) score of 72; Sensory profile score N/A.
 
 140572131
 140604862
  32732
 GRCh38
 Deletion
 Yes
  alayadhi_16_ASD_discovery_cases-caseAUT9-2
 N/A
 M
 Autism
 CARS score of 35.5; Social Responsiveness Scale (SRS) score of 73; Sensory profile score of 185.
 
 140572131
 140604862
  32732
 GRCh38
 Deletion
 Yes
  gai_11_ASD_replication_cases-AU062703
 
 
 Autism
 
 
 141467560
 141663253
  195694
 Unknown
 Duplication
 No
  girirajan_12_ASD/DD/ID_discovery_cases-case35334
 11 mos.
 M
 MCA
 No developmental delay as of yet. Normal tone. Moderate mixed hearing loss. Dysmorphic features: retrognathia, small cupped malformed right ear. Congenital anomalies: cleft palate, left clubfoot, right multicystic dysplastic kidney. Other features: exotropia. Growth parameters: weight <3rd %ile, height 3rd %ile, OFC -1.6 SD. Family history: father has cleft palate and learning disability; mother has renal problems.
 NA
 139341999
 140069910
  727912
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-11948.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
 143043477
 143089250
  45774
 GRCh38
 Duplication
 Yes
  girirajan_13a_ASD_discovery_cases-12831.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
 143043477
 143089250
  45774
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002709
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 139525129
 140095577
  570449
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005256
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 140069651
 141507894
  1438244
 GRCh38
 Deletion
 Yes
  krumm_13_ASD_discovery_cases-case11108.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 11108. SRS score of 75.
 Full-scale IQ (FSIQ) score of 104.
 142165621
 142357119
  191499
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12631.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12631. SRS score of 78.
 Full-scale IQ (FSIQ) score of 80.
 142170324
 142357119
  186796
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13176.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13176. SRS score of 90.
 Full-scale IQ (FSIQ) score of 137.
 142177481
 142183049
  5569
 GRCh38
 Deletion
 No (not tested)
  krumm_13_ASD_discovery_cases-case13335.p1
 N/A
 F
 ASD
 ASD proband from SSC quad family 13335. SRS score N/A.
 Full-scale IQ (FSIQ) score of 18.
 142165621
 142365366
  199746
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11108.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 142165621
 142357119
  191499
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11948.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 143050938
 143056452
  5515
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12613.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 142165621
 142365179
  199559
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12631.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 142165621
 142357119
  191499
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13400.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 142165621
 142365179
  199559
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13716.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 142165621
 142365366
  199746
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13727.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 142204691
 142371335
  166645
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13727.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 142449428
 142459383
  9956
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14119.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 142165621
 142365179
  199559
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11948.p1
 NA
 F
 ASD
 NA
 NA
 143048116
 143082352
  34237
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam982Proband10744
 N/A
 F
 ASD
 Additional clinical profile info N/A
 ID
 142126158
 142296748
  170591
 GRCh38
 Duplication
 No
  o'roak_12_ASD_discovery_cases-case13335.p1
 NA
 F
 ASD/Autism
 Case also identified with de novo ACP2 and ZNF420 missense mutations. No additional clinical info available.
 Low IQ. Non verbal IQ, 25
 142103779
 142365179
  261401
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1232_3
 NA
 M
 ASD
 NA
 NA
 141812798
 141941937
  129140
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1232_3
 NA
 M
 ASD
 NA
 NA
 141497453
 141667984
  170532
 Unknown
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case01HI2143A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU080904; NDAR ID NDAR_INVGY108HH0)
 
 142093954
 142365368
  271415
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case104085S
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 143054792
 143069710
  14919
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case111520L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 142215220
 142271637
  56418
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case134846
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 144252568
 144285510
  32943
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case72085
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 142049075
 142092613
  43539
 Unknown
 Deletion
 No
  quintela_17_DD/ID_discovery_cases-caseID_560
 5 yrs.
 M
 Intellectual disability
 Additional clinical information N/A
 Intellectual disability
 139463576
 140109397
  645822
 GRCh38
 Duplication
 No
  rosenfeld_10_ASD_discovery_cases-case10306
 NA
 NA
 ASD
 NA
 NA
 143400305
 143572801
  172496
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1130-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 142103779
 142353090
  249312
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1207-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 142103779
 142353090
  249312
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
 N/A
 N/A
 ACC-PMG
 Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: N/A.
 142116873
 142353090
  236218
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11108.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 114; verbal IQ, 85
 142102385
 142366468
  264084
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11115.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
 142243326
 142277684
  34359
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12409.p1
 10.8
 M
 Autism
 NA
 Full-scale IQ, 107; non-verbal IQ, 106; verbal IQ, 109
 141219704
 141224683
  4980
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12512.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 82; verbal IQ, 95
 142103779
 142360537
  256759
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12539.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
 139838939
 139887952
  49014
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12613.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
 142103779
 142360537
  256759
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12631.p1
 17.2
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 87; verbal IQ, 76
 142106756
 142360537
  253782
 GRCh38
 Duplication
 No
  shen_10_ASD_discovery_cases-ASD-09-036
 NA
 F
 ASD
 NA
 NA
 142403667
 142755646
  351980
 GRCh38
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  krumm_13_ASD_discovery_controls-control11057.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11057. SRS score of 34.
 
  142165621
  142365366
  199746
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control11108.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11108. SRS score of 51.
 
  142165621
  142365179
  199559
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control11304.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11304. SRS score of 51.
 
  142165621
  142365179
  199559
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control12631.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12631. SRS score N/A.
 
  142170324
  142365366
  195043
  GRCh38
  Duplication
  Yes
  krumm_13_ASD_discovery_controls-control13176.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13176. SRS score of 42.
 
  142177481
  142183049
  5569
  GRCh38
  Deletion
  No (not tested)
  krumm_13_ASD_discovery_controls-control13335.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13335. SRS score of 36.
 
  142165621
  142365366
  199746
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11057.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  142165621
  142365366
  199746
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11108.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  142165621
  142357119
  191499
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11304.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  142165621
  142365179
  199559
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12512.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  142213513
  142357121
  143609
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12613.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  142165621
  142357119
  191499
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12631.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  142165621
  142365179
  199559
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14119.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  142165621
  142365179
  199559
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11948.s1
  NA
  M
  Control
  NA
  NA
  143048116
  143082352
  34237
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C29918A
  N/A
  F
  Control
  NIMH Control (NIMH ID 15210)
 
  142165620
  142365368
  199749
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C36383A
  N/A
  M
  Control
  NIMH Control (NIMH ID 85807)
 
  142165620
  142365368
  199749
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control04C36643A
  N/A
  M
  Control
  NIMH Control (NIMH ID 97046)
 
  142165620
  142365368
  199749
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C41783A
  N/A
  M
  Control
  NIMH Control (NIMH ID 95046)
 
  142165620
  142365368
  199749
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C41920
  N/A
  M
  Control
  NIMH Control (NIMH ID 55831)
 
  139371721
  139476461
  104741
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11057.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  142102385
  142366468
  264084
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11108.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  142102385
  142366468
  264084
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11304.s1
  8.3
  F
  Control (matched sibling)
  NA
  NA
  142102385
  142366468
  264084
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  142103779
  142366468
  262690
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11471.s1
  7.8
  F
  Control (matched sibling)
  NA
  NA
  140161414
  140169126
  7713
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11511.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  139900227
  139902682
  2456
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11511.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  142906821
  142913576
  6756
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11883.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  139900227
  139902682
  2456
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11948.s1
  11.8
  M
  Control (matched sibling)
  NA
  NA
  143051472
  143081209
  29738
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12512.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  142100008
  142360537
  260530
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12613.s1
  12.6
  M
  Control (matched sibling)
  NA
  NA
  142103779
  142360537
  256759
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12631.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  142102385
  142347092
  244708
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 alayadhi_16_ASD_discovery_cases-caseAUT5-1
 qPCR
 
 De novo (CNV not observed in either parent)
 Multiplex
 
 CLSTN2
 
 alayadhi_16_ASD_discovery_cases-caseAUT5-2
 qPCR
 
 De novo (CNV not observed in either parent)
 Multiplex
 
 CLSTN2
 
 alayadhi_16_ASD_discovery_cases-caseAUT9-1
 qPCR
 
 De novo (CNV not observed in either parent)
 Multiplex
 
 CLSTN2
 
 alayadhi_16_ASD_discovery_cases-caseAUT9-2
 qPCR
 
 De novo (CNV not observed in either parent)
 Multiplex
 
 CLSTN2
 
 gai_11_ASD_replication_cases-AU062703
 
 
 Inherited
 
 
 CLSTN2
 
 girirajan_12_ASD/DD/ID_discovery_cases-case35334
 FISH, aCGH, or confirmation by inheritance
 
 Unknown
 Unknown
 Unknown
 ACTG1P1,RN7SKP124,RN7SL724P,TRMT112P5,COPB2,RBP1,MRPS22,NMNAT3,RBP2,CLSTN2
 
 girirajan_13a_ASD_discovery_cases-11948.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 U2SURP
 
 girirajan_13a_ASD_discovery_cases-12831.p1
 aCGH (NimbleGen 135K array)
 
 Paternal
 Simplex
 Unknown
 U2SURP
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002709
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RN7SKP124,RN7SL724P,TRMT112P5,RBP1,NMNAT3,CLSTN2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005256
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 CLSTN2-AS1,KRT18P35,TRIM42,SLC25A36,SPSB4,RPL23AP41,PXYLP1,ZBTB38,CLSTN2,RASA2
 
 krumm_13_ASD_discovery_cases-case11108.p1
 
 
 Maternal
 Simplex
 Not segregated
 GK5,XRN1
 
 krumm_13_ASD_discovery_cases-case12631.p1
 
 
 Maternal
 Simplex
 Not segregated
 GK5,XRN1
 
 krumm_13_ASD_discovery_cases-case13176.p1
 
 
 Paternal
 Simplex
 Not segregated
 GK5
 
 krumm_13_ASD_discovery_cases-case13335.p1
 
 
 Paternal
 Simplex
 Not segregated
 GK5,XRN1
 
 krumm_15_ASD_discovery_cases-case11108.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GK5,XRN1
 
 krumm_15_ASD_discovery_cases-case11948.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 U2SURP
 
 krumm_15_ASD_discovery_cases-case12613.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GK5,XRN1
 
 krumm_15_ASD_discovery_cases-case12631.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GK5,XRN1
 
 krumm_15_ASD_discovery_cases-case13400.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 GK5,XRN1
 
 krumm_15_ASD_discovery_cases-case13716.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GK5,XRN1
 
 krumm_15_ASD_discovery_cases-case13727.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GK5,XRN1
 
 krumm_15_ASD_discovery_cases-case13727.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 ATR
 
 krumm_15_ASD_discovery_cases-case14119.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GK5,XRN1
 
 levy_11_ASD_discovery_cases-11948.p1
 
 
 Paternal
 Simplex
 Not segregated
 U2SURP
 
 nava_13_ASD_discovery_cases-Fam982Proband10744
 
 
 Unknown
 Simplex
 Unknown
 RNU6-425P,TFDP2,GK5
 
 o'roak_12_ASD_discovery_cases-case13335.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 RNU6-425P,TFDP2,GK5,XRN1
 
 pinto_10_ASD_discovery_cases-case1232_3
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 TRIM42
 
 pinto_10_ASD_discovery_cases-case1232_3
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 CLSTN2
 
 poultney_13_ASD_discovery_cases-case01HI2143A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RNU6-425P,TFDP2,GK5,XRN1
 
 prasad_12_ASD_discovery_cases-case104085S
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case111520L
 
 
 Unknown
 Unknown
 Unknown
 SPSB4
 
 prasad_12_ASD_discovery_cases-case134846
 
 
 Unknown
 Unknown
 Unknown
 U2SURP
 
 prasad_12_ASD_discovery_cases-case72085
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 quintela_17_DD/ID_discovery_cases-caseID_560
 
 
 Unknown
 
 Unknown
 ACTG1P1,RN7SKP124,RN7SL724P,TRMT112P5,RBP1,NMNAT3,RBP2,CLSTN2
 
 rosenfeld_10_ASD_discovery_cases-case10306
 FISH
 
 Paternal
 Unknown
 Unknown
 GK5,XRN1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1130-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RNU6-425P,TFDP2,GK5,XRN1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1207-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RNU6-425P,TFDP2,GK5,XRN1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 RNU6-425P,TFDP2,GK5,XRN1
 
 sanders_11_ASD_discovery_cases-11108.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-425P,TFDP2,GK5,XRN1
 
 sanders_11_ASD_discovery_cases-11115.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12409.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12512.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-425P,TFDP2,GK5,XRN1
 
 sanders_11_ASD_discovery_cases-12539.p1
 
 
 Maternal
 Simplex (trio)
 NA
 TRMT112P5
 
 sanders_11_ASD_discovery_cases-12613.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-425P,TFDP2,GK5,XRN1
 
 sanders_11_ASD_discovery_cases-12631.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RNU6-425P,TFDP2,GK5,XRN1
 
 shen_10_ASD_discovery_cases-ASD-09-036
 
 
 Unknown
 NA
 NA
 RNU6-1294P,RNU1-100P,RPL6P9,RNA5SP143,RN7SKP25,PLS1-AS1,XRN1,ATR,TRPC1,PLS1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control11057.s1
 
 
  Paternal
  Simplex
 
  GK5,XRN1
 
krumm_13_ASD_discovery_controls-control11108.s1
 
 
  Maternal
  Simplex
 
  GK5,XRN1
 
krumm_13_ASD_discovery_controls-control11304.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Paternal
  Simplex
 
  GK5,XRN1
 
krumm_13_ASD_discovery_controls-control12631.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  GK5,XRN1
 
krumm_13_ASD_discovery_controls-control13176.s1
 
 
  Paternal
  Simplex
 
  GK5
 
krumm_13_ASD_discovery_controls-control13335.s1
 
 
  Paternal
  Simplex
 
  GK5,XRN1
 
krumm_15_ASD_discovery_controls-control11057.s1
  Illumina 1M
 
  Paternal
 
 
  GK5,XRN1
 
krumm_15_ASD_discovery_controls-control11108.s1
  Illumina 1M
 
  Maternal
 
 
  GK5,XRN1
 
krumm_15_ASD_discovery_controls-control11304.s1
  Illumina 1M
 
  Paternal
 
 
  GK5,XRN1
 
krumm_15_ASD_discovery_controls-control12512.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GK5,XRN1
 
krumm_15_ASD_discovery_controls-control12613.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GK5,XRN1
 
krumm_15_ASD_discovery_controls-control12631.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GK5,XRN1
 
krumm_15_ASD_discovery_controls-control14119.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GK5,XRN1
 
levy_11_ASD_discovery_controls-11948.s1
 
 
  Paternal
  Simplex
  NA
  U2SURP
 
poultney_13_ASD_discovery_controls-control04C29918A
 
 
  Unknown
 
 
  GK5,XRN1
 
poultney_13_ASD_discovery_controls-control04C36383A
 
 
  Unknown
 
 
  GK5,XRN1
 
poultney_13_ASD_discovery_controls-control04C36643A
 
 
  Unknown
 
 
  GK5,XRN1
 
poultney_13_ASD_discovery_controls-control05C41783A
 
 
  Unknown
 
 
  GK5,XRN1
 
poultney_13_ASD_discovery_controls-control05C41920
 
 
  Unknown
 
 
  COPB2,RBP2
 
sanders_11_ASD_discovery_controls-11057.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-425P,TFDP2,GK5,XRN1
 
sanders_11_ASD_discovery_controls-11108.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-425P,TFDP2,GK5,XRN1
 
sanders_11_ASD_discovery_controls-11304.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-425P,TFDP2,GK5,XRN1
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-425P,TFDP2,GK5,XRN1
 
sanders_11_ASD_discovery_controls-11471.s1
 
 
  Maternal
  Simplex (quad)
  NA
  CLSTN2
 
sanders_11_ASD_discovery_controls-11511.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11511.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11883.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11948.s1
 
 
  Paternal
  Simplex (quad)
  NA
  U2SURP
 
sanders_11_ASD_discovery_controls-12512.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-425P,TFDP2,GK5,XRN1
 
sanders_11_ASD_discovery_controls-12613.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RNU6-425P,TFDP2,GK5,XRN1
 
sanders_11_ASD_discovery_controls-12631.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RNU6-425P,TFDP2,GK5,XRN1
 

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