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12q11CNV Type: Deletion-Duplication


Largest CNV size: 191872 bp

Statistics Box:
Number of Reports: 3


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

No Major Reports

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-Duplication
Global increases in both common and rare copy number load associated with autism.
Duplication
The landscape of copy number variations in Finnish families with autism spectrum disorders.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 92180
 0
 2
 2
 kanduri_15_ASD_discovery_cases
 Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
 80
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
 N/A
 N/A
 152301
 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
 191872
 7
 33
 40

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 69093
 1
 0
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 122391
 0
 12
 12

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 kanduri_15_ASD_discovery_cases
  Finnish
 Solid phase hybridization
  Illumina Human OmniExpress-12v1.0 BeadChip
 QuantiSNP, PennCNV
 Illumina BeadStudio
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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
 
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  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
  girirajan_13b_ASD_discovery_cases-15008109638
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 37464245
 37556425
  92181
 GRCh38
 Duplication
 No
  girirajan_13b_ASD_discovery_cases-31008110295
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 37464245
 37542478
  78234
 GRCh38
 Duplication
 No
  kanduri_15_ASD_discovery_cases-case1970
 N/A
 N/A
 ASD
 Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
 
 37986081
 38138381
  152301
 Unknown
 Deletion
 No
  sanders_11_ASD_discovery_cases-11049.p1
 7.6
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 134; verbal IQ, 107
 37621503
 37712331
  90829
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11167.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
 37590729
 37772204
  181476
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11277.p1
 10.2
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 31
 37601562
 37751483
  149922
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11355.p1
 8.8
 M
 ASD
 NA
 Full-scale IQ, 69; non-verbal IQ, 73; verbal IQ, 67
 37601562
 37793434
  191873
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11376.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 89; verbal IQ, 97
 37666202
 37724342
  58141
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11439.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 94; verbal IQ, 108
 37621503
 37724342
  102840
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 37621503
 37667237
  45735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11601.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 98; verbal IQ, 83
 37621503
 37706423
  84921
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11653.p1
 4.5
 M
 Autism
 NA
 Full-scale IQ, 36; non-verbal IQ, 44; verbal IQ, 28
 37621503
 37667237
  45735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11680.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 54
 37601951
 37712331
  110381
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11712.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
 37724342
 37731045
  6704
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11715.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 95; verbal IQ, 101
 37621503
 37667237
  45735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11793.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 111; non-verbal IQ, 100; verbal IQ, 129
 37634030
 37678971
  44942
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11843.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 113; verbal IQ, 117
 37621503
 37802140
  180638
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11892.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 51; verbal IQ, 70
 37590729
 37724342
  133614
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11959.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 79; verbal IQ, 49
 37621503
 37712331
  90829
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11996.p1
 10
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 85; verbal IQ, 54
 37575823
 37678971
  103149
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12073.p1
 5.9
 F
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 111; verbal IQ, 105
 37590729
 37712331
  121603
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12119.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
 37590729
 37706423
  115695
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12194.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 97; verbal IQ, 78
 37621503
 37706423
  84921
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12279.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 64; verbal IQ, 58
 37621503
 37724342
  102840
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12315.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 53; non-verbal IQ, 54; verbal IQ, 61
 37621503
 37672488
  50986
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12332.p1
 12.3
 M
 ASD
 NA
 Full-scale IQ, 107; non-verbal IQ, 101; verbal IQ, 119
 37621503
 37667237
  45735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12363.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
 37621503
 37712331
  90829
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12379.p1
 7.1
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 93; verbal IQ, 86
 37601562
 37724342
  122781
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12392.p1
 7
 M
 ASD
 NA
 Full-scale IQ, 103; non-verbal IQ, 102; verbal IQ, 105
 37621503
 37635647
  14145
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12476.p1
 8.1
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 100; verbal IQ, 79
 37621503
 37667237
  45735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12494.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 67; verbal IQ, 56
 37634030
 37650242
  16213
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12515.p1
 6.3
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 37621503
 37672488
  50986
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12517.p1
 13.4
 M
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 41; verbal IQ, 20
 37621503
 37672488
  50986
 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
 37621503
 37667237
  45735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12648.p1
 9.8
 F
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 96; verbal IQ, 100
 37621503
 37751483
  129981
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12832.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 58; verbal IQ, 51
 37621503
 37672488
  50986
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12944.p1
 7.9
 M
 ASD
 NA
 Full-scale IQ, 77; non-verbal IQ, 84; verbal IQ, 60
 37621503
 37667237
  45735
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12956.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 91; verbal IQ, 80
 37666202
 37700536
  34335
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13050.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 93; verbal IQ, 108
 37621503
 37712331
  90829
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13056.p1
 4.6
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 65; verbal IQ, 58
 37650242
 37700536
  50295
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6.7
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 37672488
 37700536
  28049
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13193.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 37464097
 37482598
  18502
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13233.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
 37672488
 37700536
  28049
 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
  kanduri_15_ASD_discovery_controls-control_split1532
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  38118144
  38187236
  69093
  Unknown
  Deletion
  No
  sanders_11_ASD_discovery_controls-11644.s1
  14.2
  F
  Control (matched sibling)
  NA
  NA
  37621503
  37712331
  90829
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  37724342
  37731045
  6704
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12115.s1
  8.5
  M
  Control (matched sibling)
  NA
  NA
  37621503
  37731045
  109543
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12320.s1
  23.3
  F
  Control (matched sibling)
  NA
  NA
  37621503
  37712331
  90829
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12418.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  37621503
  37712331
  90829
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12510.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  37621503
  37706423
  84921
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12648.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  37590729
  37712331
  121603
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12685.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  37634030
  37727134
  93105
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12749.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  37621503
  37667237
  45735
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12832.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  37621503
  37706423
  84921
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12997.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  37601951
  37724342
  122392
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13015.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  37601562
  37667237
  65676
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_13b_ASD_discovery_cases-15008109638
 
 
 Unknown
 Unknown
 Unknown
 
 
 girirajan_13b_ASD_discovery_cases-31008110295
 
 
 Unknown
 Unknown
 Unknown
 
 
 kanduri_15_ASD_discovery_cases-case1970
 
 
 De novo
 Unknown
 Unknown
 Intergenic CNV: nearest gene, ALG10B(dist=572176)
 
 sanders_11_ASD_discovery_cases-11049.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11167.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11277.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11355.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11376.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11439.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11601.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11653.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11680.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11712.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11715.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11793.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11843.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11892.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11959.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11996.p1
 
 
 Maternal
 Simplex (trio)
 NA
 ZNF970P
 
 sanders_11_ASD_discovery_cases-12073.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12119.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12194.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12279.p1
 
 
 Both parents
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12315.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12332.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12363.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12379.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12392.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12476.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12494.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12515.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12517.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12539.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12648.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12832.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12944.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12956.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-13050.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13056.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13193.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13233.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
kanduri_15_ASD_discovery_controls-control_split1532
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, ALG10B(dist=523321)
 
sanders_11_ASD_discovery_controls-11644.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11712.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12115.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12320.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12418.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12510.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12648.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12685.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12749.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12832.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12997.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13015.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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