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3p12.2CNV Type: Deletion-Duplication


Largest CNV size: 694000 bp

Statistics Box:
Number of Reports: 11



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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion

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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Copy number variation in Han Chinese individuals with 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
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 585000
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 290269
 4
 2
 6
 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
 40820
 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
 1513000
 1
 0
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 13240
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 13240
 2
 0
 2
 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
 
 
 51446
 2
 0
 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
 55029
 2
 0
 2
 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
 272090
 8
 0
 8
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 694000
 0
 2
 2
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 2621
 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
 121773
 4
 0
 4
 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
 13240
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 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)
 55029
 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.
 
 73151
 4
 0
 4
 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
 2621
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 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
 None
 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)
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 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
  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
 
  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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300206
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 80566987
 81152423
  585437
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1045_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83075078
 83107632
  32555
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18169_303
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 82134037
 82208542
  74506
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3087_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 83158367
 83223589
  65223
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3106_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 82642668
 82932937
  290270
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4534_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 82034109
 82160037
  125929
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5070_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 82666192
 82717637
  51446
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case539-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 83142634
 83183454
  40821
 GRCh38
 Duplication
 No
  girirajan_13a_ASD_discovery_cases-14166.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
 81738159
 83258159
  1520001
 GRCh38
 Deletion
 No
  krumm_13_ASD_discovery_cases-case12252.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12252. SRS score of 74.
 Full-scale IQ (FSIQ) score of 87.
 81577924
 81591164
  13241
 GRCh38
 Deletion
 No (not tested)
  krumm_15_ASD_discovery_cases-case12252.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 81577924
 81591164
  13241
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case12383.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 81586091
 81594023
  7933
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case1045_3
 NA
 M
 ASD
 NA
 NA
 83075078
 83107632
  32555
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5070_4
 NA
 M
 Autism
 Below average language (<1%ile), no epilepsy, no dysmorphic features
 Average nonverbal IQ (34%ile)
 82666192
 82717637
  51446
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case47097
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 82794970
 82849998
  55029
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case51524
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 82392147
 82413674
  21528
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11088.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 102; verbal IQ, 80
 83026820
 83298910
  272091
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11198.p1
 11.9
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 115; verbal IQ, 123
 83075078
 83107632
  32555
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12596.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
 83192552
 83228856
  36305
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12605.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 120; non-verbal IQ, 108; verbal IQ, 136
 83220579
 83228856
  8278
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12723.p1
 6.7
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 61; verbal IQ, 38
 81900184
 81913371
  13188
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12930.p1
 12.2
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 57
 82663203
 82695991
  32789
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13067.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
 83079263
 83107632
  28370
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13150.p1
 8.1
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
 83079263
 83107632
  28370
 GRCh38
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR030-F9-3192.001
 NA
 
 ASD
 NA
 NA
 82364359
 83058359
  694001
 GRCh38
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR037-A9-1014-A9-P3
 NA
 
 ASD
 NA
 NA
 82364359
 83058359
  694001
 GRCh38
 Duplication
 Yes
  yin_16_ASD_discovery_cases-case116
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 82195524
 82198144
  2621
 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-controlB830766_1007854715
  N/A
  N/A
  Control
  No previous psychiatric history
 
  81769889
  81805274
  35386
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB886417_1007872528
  N/A
  N/A
  Control
  No previous psychiatric history
 
  81993488
  82115261
  121774
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900347_900347
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83211876
  83276087
  64212
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902820_902820
  N/A
  N/A
  Control
  No previous psychiatric history
 
  83075078
  83107632
  32555
  GRCh38
  Deletion
  No
  krumm_13_ASD_discovery_controls-control12252.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12252. SRS score of 41.
 
  81577924
  81591164
  13241
  GRCh38
  Deletion
  Yes
  sanders_11_ASD_discovery_controls-11048.s1
  8.1
  M
  Control (matched sibling)
  NA
  NA
  82673157
  82693479
  20323
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12788.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  83220579
  83228856
  8278
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12930.s1
  14.8
  M
  Control (matched sibling)
  NA
  NA
  82663203
  82695991
  32789
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13183.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  82745590
  82818741
  73152
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300206
 
 
 Unknown
 
 
 LINC02050,LINC02027
 
 engchuan_15_ASD_discovery_cases-case1045_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case18169_303
 
 
 Unknown
 
 
 LINC02008
 
 engchuan_15_ASD_discovery_cases-case3087_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case3106_3
 
 
 Unknown
 
 
 CYP51A1P1
 
 engchuan_15_ASD_discovery_cases-case4534_1
 
 
 Unknown
 
 
 LINC02008
 
 engchuan_15_ASD_discovery_cases-case5070_4
 
 
 Unknown
 
 
 
 
 gazzellone_14_ASD_discovery_cases-case539-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13a_ASD_discovery_cases-14166.p1
 
 
 Unknown
 Simplex
 Unknown
 RPL7AP23,CYP51A1P1,GBE1,LINC02008
 
 krumm_13_ASD_discovery_cases-case12252.p1
 
 
 Maternal
 Simplex
 Not segregated
 GBE1
 
 krumm_15_ASD_discovery_cases-case12252.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GBE1
 
 krumm_15_ASD_discovery_cases-case12383.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GBE1
 
 pinto_10_ASD_discovery_cases-case1045_3
 Illumina550
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5070_4
 Agilent1M
 
 maternal
 Multiplex
 Unknown
 
 
 prasad_12_ASD_discovery_cases-case47097
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case51524
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11088.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11198.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12596.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12605.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12723.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12930.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13067.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13150.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 szatmari_07_ASD_discovery_cases-NAAR030-F9-3192.001
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 CYP51A1P1,LINC02008
 
 szatmari_07_ASD_discovery_cases-NAAR037-A9-1014-A9-P3
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 CYP51A1P1,LINC02008
 
 yin_16_ASD_discovery_cases-case116
 
 
 Unknown
 Unknown
 Unknown
 LINC02008
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB830766_1007854715
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB886417_1007872528
 
 
  Unknown
 
 
  LINC02008
 
engchuan_15_ASD_discovery_controls-controlHABC_900347_900347
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902820_902820
 
 
  Unknown
 
 
 
 
krumm_13_ASD_discovery_controls-control12252.s1
  Solid phase hybridization (Illumina 1M) and aCGH (Agilent SurePrint G3 4x180K)
 
  Maternal
  Simplex
 
  GBE1
 
sanders_11_ASD_discovery_controls-11048.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12788.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12930.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13183.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CYP51A1P1
 

No Animal Model Data Available
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