HELP     Sign In

3p14.3CNV Type: Deletion-Duplication


Largest CNV size: 39766 bp

Statistics Box:
Number of Reports: 15



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Duplication
Novel copy number variants in children with autism and additional developmental anomalies.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
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
 210642
 2
 0
 2
 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
 267330
 1
 0
 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
 411388
 0
 1
 1
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 816
 1
 0
 1
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 119035
 1
 0
 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
 1685701
 1
 1
 2
 guo_18_ASD/DD/ID_discovery_cases
 Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
 213
 Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
 N/A
 N/A
 32799
 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
 498638
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 775
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 1059
 0
 1
 1
 nord_11_ASD_discovery_cases
 Youth with ASD (as part of mother-father-child trios)
 41
 ASD
 
 85.4% Male
 76756
 0
 1
 1
 poultney_13_ASD_discovery_cases
 ASD cases of European ancestry from AGRE retained after filtering (original cohort size of 432 cases)
 299
 Cases diagnosed with ASD
 N/A
 79.86% Male (before filtering)
 124371
 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
 16686
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 39766
 4
 1
 5
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 650000
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_controls
 Unaffected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (112 individuals from 311 families) and the Simons Simplex 1 (SSC1) cohort (518 controls from simplex quad families)
 630
 Control
 N/A
 N/A
 210642
 1
 0
 1
 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
 348427
 2
 3
 5
 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
 0
 0
 0
 0
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 1059
 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.
 
 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)
 203321
 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)
 16686
 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.
 
 25841
 6
 1
 7

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
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp, Affymetrix 250K Syt
 HMM
 CNAG v2.0
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 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
 aCGH (NimbleGen 135K array)
 guo_18_ASD/DD/ID_discovery_cases
  N/A
 WGS
  Illumina HiSeq X Ten
 dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
 
 aCGH, Sanger sequencing
 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)
 nord_11_ASD_discovery_cases
  29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
 aCGH
  NimbleGen HD2
 Sliding-window algorithm, ~10 kb minumum size threshold
 
 None
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 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
 
 
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  brandler_18_ASD_discovery_controls
  N/A
  WGS
  Illumina HiSeq X10 or HiSeq 2500
  ForestSV, Lumpy, Manta, Mobster, SV2
 
  PCR, array SNP
  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
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_discovery_cases-caseSSC07305
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 54564823
 54775465
  210643
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_discovery_cases-caseSSC08056
 N/A
 M
 ASD
 Case from SSC_phase1 cohort
 
 55565777
 55566841
  1065
 GRCh38
 Deletion
 Yes
  davis_09_ASD_discovery_cases-AU008404
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: trigonocephaly
 
 57839689
 58107019
  267330
 Unknown
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6242_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 54900376
 55311763
  411388
 GRCh38
 Duplication
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-case000029
 N/A
 N/A
 N/A
 Clinical profile N/A; CNV from Supplementary Table S35
 N/A
 57630255
 57631071
  817
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case666-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 55250109
 55369144
  119036
 GRCh38
 Deletion
 No
  girirajan_13a_ASD_discovery_cases-13358.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
 54566411
 54772665
  206255
 GRCh38
 Deletion
 Yes
  girirajan_13a_ASD_discovery_cases-AU2554301
 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
 58502490
 60188190
  1685701
 GRCh38
 Duplication
 Yes
  guo_18_ASD/DD/ID_discovery_cases-caseBK-398-03
 N/A
 M
 ASD and intellectual disability
 
 Intellectual disability (FSIQ 70, NVIQ 62, VIQ 94)
 55063001
 55095800
  32800
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001765
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 57911290
 58409928
  498639
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12683.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12683. SRS score of 66.
 Full-scale IQ (FSIQ) score of 89.
 57109536
 57110311
  776
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case11544.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 56592969
 56594028
  1060
 GRCh38
 Duplication
 Yes
  nord_11_ASD_discovery_cases-308-1
 
 
 ASD
 
 
 55762646
 55839401
  76756
 Unknown
 Duplication
 No
  poultney_13_ASD_discovery_cases-case99HI1129A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU008404; NDAR ID NDAR_INVFD177NEL)
 
 58008563
 58132933
  124371
 GRCh38
 Deletion
 No
  prasad_12_ASD_discovery_cases-case138645L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 56239664
 56256349
  16686
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11145.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 79; verbal IQ 80
 55307115
 55315404
  8290
 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
 55307115
 55311763
  4649
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11544.p1
 15.5
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 112; verbal IQ, 113
 56574005
 56613771
  39767
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12360.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 101
 55086878
 55122342
  35465
 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
 54738414
 54749300
  10887
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case72
 
 M
 DD/ID
 Low set ears, arched palate, camptodactyly, growth delay, severe speech delay, heart defects
 
 70819603
 71469636
  650034
 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
  brandler_18_ASD_discovery_controls-controlSSC07323
  N/A
  M
  Control
  Control from SSC_phase1 cohort
 
  54564823
  54775465
  210643
  GRCh38
  Deletion
  Yes
  engchuan_15_ASD_discovery_controls-control110036019628_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55748741
  55830477
  81737
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036020915_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  57229594
  57351490
  121897
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB609802_1007875361
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55081026
  55429452
  348427
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB646372_1007875297
  N/A
  N/A
  Control
  No previous psychiatric history
 
  54579332
  54628978
  49647
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900721_900721
  N/A
  N/A
  Control
  No previous psychiatric history
 
  55800843
  55842076
  41234
  GRCh38
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11544.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  56592969
  56594028
  1060
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C33826A
  N/A
  F
  Control
  NIMH Control (NIMH ID 47216)
 
  57628212
  57831532
  203321
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  56574005
  56575441
  1437
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11299.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  55307115
  55311763
  4649
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11473.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  55307115
  55311763
  4649
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11544.s1
  17.7
  M
  Control (matched sibling)
  NA
  NA
  56574005
  56599846
  25842
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11563.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  55148966
  55154487
  5522
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12198.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  55307115
  55311763
  4649
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  56574005
  56589502
  15498
  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-caseSSC07305
 PCR or SNP data validation
 
 Maternal
 
 
 RPS15P5,ESRG,CACNA2D3
 
 brandler_18_ASD_discovery_cases-caseSSC08056
 PCR or SNP data validation
 
 Maternal
 
 
 ERC2
 
 davis_09_ASD_discovery_cases-AU008404
 
 
 Unknown
 Unknown
 Unknown
 FLNB, SLMAP
 
 engchuan_15_ASD_discovery_cases-case6242_4
 
 
 Unknown
 
 
 LINC02030,CACNA2D3-AS1,LRTM1,LINC02017,CACNA2D3
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-case000029
 
 
 De novo
 Unknown
 Unknown
 DENND6A-AS1,DENND6A
 
 gazzellone_14_ASD_discovery_cases-case666-3
 
 
 Unknown
 Unknown
 Unknown
 LINC02030
 
 girirajan_13a_ASD_discovery_cases-13358.p1
 aCGH (NimbleGen 135K array)
 
 Maternal
 Simplex
 Unknown
 RPS15P5,ESRG,CACNA2D3
 
 girirajan_13a_ASD_discovery_cases-AU2554301
 aCGH (NimbleGen 135K array)
 
 Maternal
 Multiplex
 Unknown
 ACOX2,FAM3D-AS1,FAM3D,FAM107A,C3orf67-AS1,FHIT,C3orf67
 
 guo_18_ASD/DD/ID_discovery_cases-caseBK-398-03
 aCGH, Sanger sequencing
 
 Paternal
 Simplex
 Unknown
 CACNA2D3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001765
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PPIAP16,FLNB-AS1,ABHD6,RPP14,HTD2,PXK,SLMAP,FLNB,DNASE1L3
 
 krumm_13_ASD_discovery_cases-case12683.p1
 
 
 Maternal
 Simplex
 Segregated
 IL17RD
 
 krumm_15_ASD_discovery_cases-case11544.p1
 Illumina 1M
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 CCDC66
 
 nord_11_ASD_discovery_cases-308-1
 
 
 Paternal
 
 
 ERC2
 
 poultney_13_ASD_discovery_cases-case99HI1129A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 FLNB
 
 prasad_12_ASD_discovery_cases-case138645L
 
 
 Unknown
 Unknown
 Unknown
 ERC2
 
 sanders_11_ASD_discovery_cases-11145.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11473.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11544.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CCDC66
 
 sanders_11_ASD_discovery_cases-12360.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12435.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 CACNA2D3
 
 tzetis_12_DD/ID_discovery_cases-case72
 
 
 De novo
 Unknown
 
 FOXP1,FOXP1-AS1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_discovery_controls-controlSSC07323
  PCR or SNP data validation
 
  Maternal
 
 
  RPS15P5,ESRG,CACNA2D3
 
engchuan_15_ASD_discovery_controls-control110036019628_
 
 
  Unknown
 
 
  ERC2
 
engchuan_15_ASD_discovery_controls-control110036020915_
 
 
  Unknown
 
 
  APPL1,ASB14,DNAH12
 
engchuan_15_ASD_discovery_controls-controlB609802_1007875361
 
 
  Unknown
 
 
  LINC02030,LINC02017
 
engchuan_15_ASD_discovery_controls-controlB646372_1007875297
 
 
  Unknown
 
 
  RPS15P5,CACNA2D3
 
engchuan_15_ASD_discovery_controls-controlHABC_900721_900721
 
 
  Unknown
 
 
  ERC2
 
krumm_15_ASD_discovery_controls-control11544.s1
  Illumina 1M
 
  Paternal
 
 
  CCDC66
 
poultney_13_ASD_discovery_controls-control04C33826A
 
 
  Unknown
 
 
  DENND6A-DT,PDHA1P1,DENND6A-AS1,SLMAP,DENND6A
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CCDC66
 
sanders_11_ASD_discovery_controls-11299.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11473.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11544.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CCDC66
 
sanders_11_ASD_discovery_controls-11563.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12198.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Both parents
  Simplex (quad)
  NA
  CCDC66
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.