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3p11.2CNV Type: Deletion


Largest CNV size: 54080 bp

Statistics Box:
Number of Reports: 8



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.
Deletion
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 coe_14_ASD/DD/ID_discovery_cases
 Primarily pediatric cases with intellectual disability, developmental delay, and/or ASD (cohort consists of 13,318 previously unpublished cases and 15,767 cases originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 29085
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 320000
 9
 0
 9
 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
 54079
 1
 1
 2
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 609188
 0
 1
 1
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 29000
 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
 
 
 54080
 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
 53954
 1
 0
 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
 53167
 13
 0
 13
 walker_13_ASD_discovery_cases
 Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
 1491
 Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
 N/A
 N/A
 35126
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 coe_14_ASD/DD/ID_discovery_controls
 Adult population controls (cohort consists of 11,255 new controls and 8329 controls originally published in Cooper et al., Nature Genetics 2011); annotated CNVs extracted from Table 1 ("New CNVs") and Supplementary Table 2 ("Newly Significant Genomic Disorders").
 19584
 Control
 N/A
 N/A
 320000
 0
 0
 0
 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
 187352
 2
 1
 3
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 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)
 53954
 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.
 
 6763
 6
 0
 6
 walker_13_ASD_discovery_controls
 Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
 3644
 Control
 N/A
 N/A
 35126
 N/A
 N/A
 N/A

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 coe_14_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  N/A
 
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 qPCR
 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
 
 
 walker_13_ASD_discovery_cases
  N/A
 Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
 QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  coe_14_ASD/DD/ID_discovery_controls
  N/A
  aCGH, solid phase hybridization
  Multiple platforms used (including HumanHap, Illumina, and Human610-Quad)
 
 
  None
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  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
 
 
  walker_13_ASD_discovery_controls
  N/A
  Array SNP, solid phase hybridization
  Illumina 1M, Affymetrix 6.0
 
  QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
  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
  coe_14_ASD/DD/ID_discovery_cases-case591
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case592
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case593
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case594
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case595
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case596
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case597
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case598
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  coe_14_ASD/DD/ID_discovery_cases-case599
 N/A
 N/A
 Intellectual disability, developmental delay, and/or ASD
 N/A
 N/A
 87188160
 87508160
  320001
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14032_600
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 87134733
 87169859
  35127
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5040_5
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 87900583
 87954662
  54080
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-5903100247
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Mixed Race
 N/A
 89212795
 89821983
  609189
 GRCh38
 Duplication
 No
  lesca_12_EP_discovery_cases-case003a
 NA
 M
 Epilepsy + autistic features
 Phenotype: i-CSWSS. Seizure Characteristics: FS, CPS, GTCS. Autistic features: Yes. ADHD features: Yes. Other features: None.
 Initial cognitive development: Normal. Cognitive regression: Yes. Verbal IQ 112, performance IQ 114 (at 5 years of age).
 87868660
 88729723
  861064
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5040_5
 NA
 F
 ASD
 NA
 NA
 87900583
 87954662
  54080
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case62231L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 88032773
 88086726
  53954
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 88659184
 88665947
  6764
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12026.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 72; verbal IQ, 36
 89072771
 89096190
  23420
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12063.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 96; verbal IQ, 82
 88659184
 88665947
  6764
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12115.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 107; verbal IQ, 94
 87657234
 87710401
  53168
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12219.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 110; verbal IQ, 136
 88659184
 88660755
  1572
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12330.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 62
 88659184
 88665947
  6764
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12359.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 87; verbal IQ, 69
 88659184
 88665947
  6764
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12423.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
 89023376
 89026905
  3530
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12573.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 70; verbal IQ, 80
 88659184
 88677722
  18539
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12838.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 93; verbal IQ, 50
 88659184
 88665947
  6764
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12851.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
 89023376
 89026905
  3530
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 87076970
 87091249
  14280
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13175.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 88659184
 88665947
  6764
 GRCh38
 Deletion
 No
  walker_13_ASD_discovery_cases-case8-14032-600
 N/A
 M
 ASD
 N/A
 N/A
 87134733
 87169859
  35127
 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-controlB250275_1007874021
  N/A
  N/A
  Control
  No previous psychiatric history
 
  87900583
  87954662
  54080
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB493911_1007842333
  N/A
  N/A
  Control
  No previous psychiatric history
 
  87641879
  87829231
  187353
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900244_900244
  N/A
  N/A
  Control
  No previous psychiatric history
 
  87725127
  87805127
  80001
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11088.s1
  14.5
  F
  Control (matched sibling)
  NA
  NA
  88659184
  88665947
  6764
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11590.s1
  7.9
  F
  Control (matched sibling)
  NA
  NA
  88659184
  88665947
  6764
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12063.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  88659184
  88665947
  6764
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12359.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  88659184
  88665947
  6764
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12573.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  88659184
  88665947
  6764
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13175.s1
  13.7
  F
  Control (matched sibling)
  NA
  NA
  88659184
  88665947
  6764
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 coe_14_ASD/DD/ID_discovery_cases-case591
 
 
 Inherited
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 coe_14_ASD/DD/ID_discovery_cases-case592
 
 
 Inherited
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 coe_14_ASD/DD/ID_discovery_cases-case593
 
 
 Inherited
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 coe_14_ASD/DD/ID_discovery_cases-case594
 
 
 Unknown
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 coe_14_ASD/DD/ID_discovery_cases-case595
 
 
 Unknown
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 coe_14_ASD/DD/ID_discovery_cases-case596
 
 
 Unknown
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 coe_14_ASD/DD/ID_discovery_cases-case597
 
 
 Unknown
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 coe_14_ASD/DD/ID_discovery_cases-case598
 
 
 Unknown
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 coe_14_ASD/DD/ID_discovery_cases-case599
 
 
 Unknown
 Unknown
 Unknown
 MIR4795,KRT8P25,CHMP2B,POU1F1
 
 engchuan_15_ASD_discovery_cases-case14032_600
 
 
 Unknown
 
 
 LINC00506
 
 engchuan_15_ASD_discovery_cases-case5040_5
 
 
 Unknown
 
 
 RNU6ATAC6P
 
 girirajan_13b_ASD_discovery_cases-5903100247
 
 
 Unknown
 Unknown
 Unknown
 MTCO2P6,MTCO1P6,EPHA3
 
 lesca_12_EP_discovery_cases-case003a
 qPCR
 
 Maternal
 Unknown
 Unknown
 RNU6ATAC6P,HTR1F,CBX5P1,ABCF2P1,NDUFA5P5,C3orf38,CSNKA2IP,CGGBP1,ZNF654
 
 pinto_10_ASD_discovery_cases-case5040_5
 Agilent1M
 
 maternal
 NA
 NA
 RNU6ATAC6P
 
 prasad_12_ASD_discovery_cases-case62231L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12026.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12063.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12115.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12219.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12330.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12359.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12573.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12838.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12851.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 LINC00506
 
 sanders_11_ASD_discovery_cases-13175.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 walker_13_ASD_discovery_cases-case8-14032-600
 
 
 Unknown
 Simplex
 Unknown
 LINC00506
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB250275_1007874021
 
 
  Unknown
 
 
  RNU6ATAC6P
 
engchuan_15_ASD_discovery_controls-controlB493911_1007842333
 
 
  Unknown
 
 
  RNU6-873P
 
engchuan_15_ASD_discovery_controls-controlHABC_900244_900244
 
 
  Unknown
 
 
  RNU6-873P
 
sanders_11_ASD_discovery_controls-11088.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11590.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12063.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12359.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12573.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13175.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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