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3p24.1CNV Type: Deletion-Duplication


Largest CNV size: 75648 bp

Statistics Box:
Number of Reports: 8



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
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.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
Paternally inherited cis-regulatory structural variants are associated with 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-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion

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
 1075
 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
 260736
 4
 0
 4
 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
 43514
 3
 1
 4
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 16578
 0
 1
 1
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 71983
 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
 47659
 1
 0
 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
 140095
 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
 75648
 21
 5
 26

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
 268993
 4
 2
 6
 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_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 16578
 0
 1
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 71983
 0
 1
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 50627
 16
 2
 18

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
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 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_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
 
 
 o'roak_12_ASD_discovery_cases
  NA
 WES
  NimbleGen EZ Exome V2.0, Illumina GAIIx or HiSeq2000
 HMM
 mrsFAST aligner
 aCGH, Sanger sequencing
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 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
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  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_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
 
 
  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-caseSSC06174
 N/A
 M
 ASD
 Case from SSC cohort
 
 27124701
 27125776
  1076
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case13100_1173
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28972413
 29233149
  260737
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5553_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 26940901
 26996849
  55949
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8488_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28917720
 28959466
  41747
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8612_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 28924265
 28972413
  48149
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003881
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30623003
 30656356
  33354
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004648
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30623003
 30666517
  43515
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004839
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30638613
 30656356
  17744
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004980
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30628928
 30656356
  27429
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11615.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 28324041
 28340619
  16579
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11615.p1
 NA
 M
 ASD
 NA
 NA
 28324631
 28396613
  71983
 GRCh38
 Duplication
 No
  o'roak_12_ASD_discovery_cases-case13008.p1
 NA
 M
 ASD/Autism
 Case also identified with de novo KALRN synonymous mutation. No additional clinical info available.
 Low IQ. Non verbal IQ, 50
 28426584
 28474243
  47660
 GRCh38
 Deletion
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-419
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 28418874
 28558968
  140095
 GRCh38
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11045.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 84; verbal IQ, 80
 28359963
 28418874
  58912
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11071.p1
 13.9
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 63; verbal IQ, 35
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11115.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11179.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11199.p1
 10.6
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 94; verbal IQ, 81
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11200.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 135; non-verbal IQ, 128; verbal IQ, 134
 26390855
 26404443
  13589
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11224.p1
 8.9
 M
 Autism
 NA
 Full-scale IQ, 127; non-verbal IQ, 112; verbal IQ, 136
 28769838
 28773426
  3589
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11246.p1
 8.2
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 96
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11247.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 128; non-verbal IQ, 129; verbal IQ, 118
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11330.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 94; verbal IQ, 80
 26390855
 26404443
  13589
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11365.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 63; verbal IQ, 64
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11368.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 89; verbal IQ, 95
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11410.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 74; verbal IQ, 40
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11474.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 116; non-verbal IQ, 112; verbal IQ, 120
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11476.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
 26383758
 26397980
  14223
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11509.p1
 16.8
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 83; verbal IQ, 80
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11536.p1
 5.8
 M
 ASD
 NA
 Full-scale IQ, 98; non-verbal IQ, 101; verbal IQ, 95
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11552.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 85; verbal IQ, 92
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11556.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
 26390855
 26397980
  7126
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11583.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
 28732558
 28732767
  210
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11615.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 83; verbal IQ, 89
 28326465
 28396329
  69865
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11657.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 75; verbal IQ, 73
 30226266
 30301914
  75649
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12345.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
 28914263
 28959466
  45204
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12523.p1
 6.1
 M
 ASD
 NA
 Full-scale IQ, 91; non-verbal IQ, 91; verbal IQ, 95
 26769044
 26799110
  30067
 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
 28769838
 28773426
  3589
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12591.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 79; verbal IQ, 69
 29908678
 29915452
  6775
 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
  engchuan_15_ASD_discovery_controls-controlB293266_1007852886
  N/A
  N/A
  Control
  No previous psychiatric history
 
  30770097
  30931522
  161426
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB381252_1007852903
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27215535
  27253342
  37808
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28894618
  29163611
  268994
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28917720
  28964841
  47122
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900938_900938
  N/A
  N/A
  Control
  No previous psychiatric history
 
  28924265
  28959466
  35202
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902808_902808
  N/A
  N/A
  Control
  No previous psychiatric history
 
  27448703
  27563239
  114537
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control11615.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  28324041
  28340619
  16579
  GRCh38
  Duplication
  Yes
  levy_11_ASD_discovery_controls-11615.s1
  NA
  F
  Control
  NA
  NA
  28324631
  28396613
  71983
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11014.s1
  5
  M
  Control (matched sibling)
  NA
  NA
  29651125
  29658734
  7610
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11043.s1
  11.5
  M
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11094.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11115.s1
  15.8
  F
  Control (matched sibling)
  NA
  NA
  26390855
  26404443
  13589
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11199.s1
  13.6
  M
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11224.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  28769838
  28773426
  3589
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11235.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11254.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  28732558
  28732767
  210
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11318.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11330.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  26390855
  26404443
  13589
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11410.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11450.s1
  12.5
  F
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11469.s1
  19.1
  F
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11552.s1
  6
  F
  Control (matched sibling)
  NA
  NA
  26390855
  26397980
  7126
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12041.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  29908678
  29913199
  4522
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12345.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  28914263
  28964890
  50628
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12592.s1
  10.1
  F
  Control (matched sibling)
  NA
  NA
  26390855
  26425731
  34877
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12650.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  28769838
  28773426
  3589
  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-caseSSC06174
 SNP VCF
 
 De novo
 
 
 NEK10
 
 engchuan_15_ASD_discovery_cases-case13100_1173
 
 
 Unknown
 
 
 MESTP4,RBMS3
 
 engchuan_15_ASD_discovery_cases-case5553_3
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8488_202
 
 
 Unknown
 
 
 RBMS3
 
 engchuan_15_ASD_discovery_cases-case8612_201
 
 
 Unknown
 
 
 RBMS3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003881
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TGFBR2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004648
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TGFBR2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004839
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TGFBR2
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004980
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 TGFBR2
 
 krumm_15_ASD_discovery_cases-case11615.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 AZI2,CMC1
 
 levy_11_ASD_discovery_cases-11615.p1
 
 
 Maternal
 Simplex
 Not segregated
 AZI2,ZCWPW2,CMC1
 
 o'roak_12_ASD_discovery_cases-case13008.p1
 aCGH, Sanger sequencing
 
 Paternal
 Simplex (quad)
 Unknown
 FAM96AP1,ZCWPW2
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR03-419
 qPCR
 
 Paternal
 Unknown
 Unknown
 FAM96AP1,ZCWPW2
 
 sanders_11_ASD_discovery_cases-11045.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ZCWPW2
 
 sanders_11_ASD_discovery_cases-11071.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11115.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11179.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11199.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11200.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11224.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBMS3
 
 sanders_11_ASD_discovery_cases-11246.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11247.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11330.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11365.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11368.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11410.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11474.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11476.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11509.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11536.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11552.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11556.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11583.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RBMS3
 
 sanders_11_ASD_discovery_cases-11615.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 AZI2,ZCWPW2
 
 sanders_11_ASD_discovery_cases-11657.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12345.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 RBMS3
 
 sanders_11_ASD_discovery_cases-12523.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12539.p1
 
 
 Maternal
 Simplex (trio)
 NA
 RBMS3
 
 sanders_11_ASD_discovery_cases-12591.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RBMS3
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB293266_1007852886
 
 
  Unknown
 
 
  GADL1
 
engchuan_15_ASD_discovery_controls-controlB381252_1007852903
 
 
  Unknown
 
 
  NEK10
 
engchuan_15_ASD_discovery_controls-controlHABC_900302_900302
 
 
  Unknown
 
 
  MESTP4,RBMS3
 
engchuan_15_ASD_discovery_controls-controlHABC_900736_900736
 
 
  Unknown
 
 
  RBMS3
 
engchuan_15_ASD_discovery_controls-controlHABC_900938_900938
 
 
  Unknown
 
 
  RBMS3
 
engchuan_15_ASD_discovery_controls-controlHABC_902808_902808
 
 
  Unknown
 
 
  RPS20P15,RNU1-96P,SLC4A7
 
krumm_15_ASD_discovery_controls-control11615.s1
  Illumina 1MDuo
 
  Maternal
 
 
  AZI2,CMC1
 
levy_11_ASD_discovery_controls-11615.s1
 
 
  Maternal
  Simplex
  NA
  AZI2,ZCWPW2,CMC1
 
sanders_11_ASD_discovery_controls-11014.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBMS3
 
sanders_11_ASD_discovery_controls-11043.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11094.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11115.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11199.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11224.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBMS3
 
sanders_11_ASD_discovery_controls-11235.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11254.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBMS3
 
sanders_11_ASD_discovery_controls-11318.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11330.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11410.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11450.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11469.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11552.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12041.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBMS3
 
sanders_11_ASD_discovery_controls-12345.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBMS3
 
sanders_11_ASD_discovery_controls-12592.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12650.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBMS3
 

No Animal Model Data Available
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