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19p13.3-p13.2CNV Type: Deletion-Duplication


Largest CNV size: 209271 bp

Statistics Box:
Number of Reports: 9



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
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-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
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
 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
 209270
 0
 10
 10
 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
 8318101
 0
 3
 3
 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
 193264
 0
 3
 3
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 193284
 0
 4
 4
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 128245
 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
 
 
 209271
 0
 2
 2
 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)
 193268
 0
 1
 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
 203246
 0
 2
 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
 209270
 1
 4
 5

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
 216683
 0
 18
 18
 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
 187347
 0
 5
 5
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 193284
 0
 4
 4
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 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)
 196140
 0
 2
 2
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 209270
 0
 5
 5

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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_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)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 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)
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 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_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)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  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
  engchuan_15_ASD_discovery_cases-case14191_3150
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case16030_1571003001
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1763_311
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1950_301
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3072_8
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4425_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5451_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5541_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6905884
 7097478
  191595
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8197_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8451_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 6895855
 6969846
  73992
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001603
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 1972245
 9648879
  7676635
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004291
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 265917
 8564134
  8298218
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004487
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 4039158
 9176125
  5136968
 GRCh38
 Duplication
 Yes
  krumm_13_ASD_discovery_cases-case12626.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12626. SRS score of 87.
 Full-scale IQ (FSIQ) score of 92.
 6896397
 6991132
  94736
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case12780.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 12780. SRS score of 79.
 Full-scale IQ (FSIQ) score of 115.
 6890480
 7083744
  193265
 GRCh38
 Duplication
 No (not tested)
  krumm_13_ASD_discovery_cases-case13504.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13504. SRS score of 77.
 Full-scale IQ (FSIQ) score of 64.
 6897148
 6989162
  92015
 GRCh38
 Duplication
 No (not tested)
  krumm_15_ASD_discovery_cases-case11721.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6890462
 7083746
  193285
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12626.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6890462
 7083746
  193285
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12780.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6890480
 7083744
  193265
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13504.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 6897148
 6989162
  92015
 GRCh38
 Duplication
 Yes
  levy_11_ASD_discovery_cases-11721.p1
 NA
 M
 ASD
 NA
 NA
 6891394
 7019638
  128245
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1763_311
 NA
 M
 ASD
 NA
 NA
 6895855
 7105125
  209271
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1950_301
 NA
 M
 Autism
 Non verbal, poor suck at birth, no epilepsy
 No IQ available (untestable by Raven)
 6895855
 7105125
  209271
 GRCh38
 Duplication
 Yes
  poultney_13_ASD_discovery_cases-case05HI3851A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1396304; NDAR ID NDAR_INVFB990VC9)
 
 6890479
 7083746
  193268
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1516-2A
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no.
 Developmental delay: unknown. Intellectual disability: no.
 6940380
 6972846
  32467
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-264a1
 N/A
 N/A
 CBLH-PMG
 Diagnosis of cerebellar hypoplasia (CBLH) and polymicrogyria (PMG).
 
 6901880
 7105125
  203246
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11179.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 65; verbal IQ, 41
 6943399
 7063361
  119963
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11721.p1
 4.8
 M
 ASD
 NA
 Full-scale IQ, 99; non-verbal IQ, 98; verbal IQ, 101
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12626.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 111; verbal IQ, 76
 6901880
 7090211
  188332
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12780.p1
 7.8
 M
 Autism
 NA
 Full-scale IQ, 115; non-verbal IQ, 110; verbal IQ, 121
 6895855
 7105125
  209271
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13067.p1
 5
 M
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 99; verbal IQ, 88
 6887725
 7090211
  202487
 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-control110036019446_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6886848
  7103531
  216684
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB259917_1007874661
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6896472
  7105125
  208654
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB266451_1007854349
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7103531
  207677
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB269904_1007853875
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6801470
  6984697
  183228
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB579510_1007848497
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7018858
  123004
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB931866_1007873677
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7018858
  123004
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB969719_1007842424
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7105125
  209271
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900226_900226
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7097478
  201624
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900293_900293
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7103531
  207677
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900785_900785
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6896472
  7105125
  208654
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6896369
  7105125
  208757
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7105125
  209271
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901112_901112
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6901880
  7105125
  203246
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902453_902453
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6901880
  7103531
  201652
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7090211
  194357
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902527_902527
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6896369
  7103531
  207163
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902561_902561
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6896369
  7103531
  207163
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
  N/A
  N/A
  Control
  No previous psychiatric history
 
  6895855
  7103531
  207677
  GRCh38
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11364.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 11364. SRS score of 40.
 
  6896397
  7083744
  187348
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12462.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12462. SRS score of 36.
 
  6896397
  7083744
  187348
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12626.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 12626. SRS score of 45.
 
  6890480
  6991132
  100653
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control12780.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 12780. SRS score of 49.
 
  6890480
  6991132
  100653
  GRCh38
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13504.s1
  N/A
  F
  Control
  Unaffected sibling from SSC quad family 13504. SRS score of 43.
 
  6896397
  7083744
  187348
  GRCh38
  Duplication
  No (not tested)
  krumm_15_ASD_discovery_controls-control11364.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6896397
  6991132
  94736
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12462.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6896397
  7083744
  187348
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12626.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6890462
  7083746
  193285
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12780.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  6890480
  7083744
  193265
  GRCh38
  Duplication
  Yes
  poultney_13_ASD_discovery_controls-control04C27774A
  N/A
  F
  Control
  NIMH Control (NIMH ID 62995)
 
  6890479
  7083746
  193268
  GRCh38
  Duplication
  No
  poultney_13_ASD_discovery_controls-control05C39242A
  N/A
  F
  Control
  NIMH Control (NIMH ID 32194)
 
  6887607
  7083746
  196140
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11364.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  6895855
  7105125
  209271
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12331.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  6895855
  7105125
  209271
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12462.s1
  20.8
  F
  Control (matched sibling)
  NA
  NA
  6898670
  7090211
  191542
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12626.s1
  16.3
  F
  Control (matched sibling)
  NA
  NA
  6901880
  7105125
  203246
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12780.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  6901880
  7105125
  203246
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case14191_3150
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case16030_1571003001
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case1763_311
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case1950_301
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case3072_8
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case4425_1
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case5451_3
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case5541_3
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case8197_202
 
 
 Unknown
 
 
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 engchuan_15_ASD_discovery_cases-case8451_201
 
 
 Unknown
 
 
 ADGRE1,ADGRE4P
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001603
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PRR36,LYPLA2P2,RNA5SP463,TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,OR7D2,ELOCP29,OR7D4,OR7D1P,OR7E24,OR7E18P,OR7E19P,OR7H1P,ZNF426-DT,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,ADGRE1,ADGRE4P,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,OR1M1,ZNF317,OR7E16P,OR7E25P,ZNF559,ZNF559-ZNF177,ZNF177,ZNF266,ZNF560,ZNF426,ZNF561,ZNF561-AS1,ZNF562,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,C3,VAV1,ZNF557,INSR,ARHGEF18,CAMSAP3,CLEC4G,EVI5L,ELAVL1,FBN3,CERS4,MUC16,ZNF699,ZNF121,IZUMO4,GNA15,ANKRD24,PTPRS,RAB11B-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004291
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 PLPP2,THEG,C2CD4C,RNA5SP462,ODF3L2,GZMM,FGF22,FSTL3,RPS2P52,LINC01836,MIR4745,MIR3187,AZU1,PRTN3,CFD,RNU6-9,WDR18,GRIN3B,RNU6-2,POLR2E,GPX4,HMGB2P1,ATP5F1D,MIDN,CIRBP-AS1,RPS15P9,GAMT,RPS15,PCSK4,PLK5,RN7SL477P,UQCR11,RNU6-1223P,MIR1909,KLF16,ADAT3,CSNK1G2-AS1,PLEKHJ1,MIR1227,MIR6789,AMH,MIR4321,OAZ1,LINGO3,TIMM13,MIR7108,LINC01775,GADD45B,RNU6-993P,ELOCP28,RN7SL121P,MIR7850,ZNF556,ZNF77,AES,SMIM24,DOHH,C19orf71,HMG20B,CACTIN-AS1,RAX2,FTLP5,RN7SL202P,NMRK2,MIR637,SNORD37,EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PRR36,LYPLA2P2,RNA5SP463,TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,MIER2,SHC2,MADCAM1,TPGS1,CDC34,BSG,HCN2,POLRMT,PRSS57,PALM,MISP,PTBP1,PLPPR3,ELANE,MED16,R3HDM4,ARID3A,TMEM259,CNN2,ARHGAP45,SBNO2,CBARP,CIRBP,C19orf24,EFNA2,NDUFS7,DAZAP1,APC2,C19orf25,REEP6,ADAMTSL5,MEX3D,MBD3,TCF3,ONECUT3,ATP8B3,ABHD17A,SCAMP4,BTBD2,MKNK2,MOB3A,AP3D1,SF3A2,JSRP1,PEAK3,LSM7,SPPL2B,TMPRSS9,LMNB2,DIRAS1,SLC39A3,SGTA,THOP1,ZNF554,ZNF555,ZNF57,TLE6,GNA11,S1PR4,NCLN,FZR1,GIPC3,TBXA2R,CACTIN,TJP3,APBA3,MRPL54,ZFR2,ATCAY,DAPK3,EEF2,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,ADGRE1,ADGRE4P,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,RNF126,KISS1R,STK11,REXO1,CSNK1G2,DOT1L,GNG7,TLE2,CELF5,NFIC,MFSD12,PIP5K1C,MATK,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,C3,VAV1,ZNF557,INSR,ARHGEF18,CAMSAP3,CLEC4G,EVI5L,ELAVL1,FBN3,CERS4,ABCA7,IZUMO4,GNA15,ANKRD24,PTPRS,RAB11B-AS1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004487
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 EBI3,SHD,EIF1P6,MIR4746,PLIN5,MIR7-3HG,MIR7-3,MIR4747,RPL32P34,SNRPEP4,DUS3L,NRTN,FUT5,VMAC,CLPP,PSPN,MIR6885,MIR6790,MIR3940,SLC25A41,CRB3,TUBB4A,TNFSF9,CLIC4P2,RPL7P50,MIR6791,FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,MCOLN1,MIR6792,XAB2,PET100,PCP2,STXBP2,RPS27AP19,RETN,MCEMP1,CD209,RPL21P129,CLEC4GP1,EXOSC3P2,PRR36,LYPLA2P2,RNA5SP463,TGFBR3L,SNAPC2,CTXN1,NDUFA7,MIR4999,RAB11B,PRAM1,ZNF414,ACTL9,OR2Z1,RPL23AP78,MBD3L1,BOLA3P2,OR1M4P,OR7G2,OR7G1,OR7G15P,OR7G3,PIAS4,MAP2K2,CREB3L3,SIRT6,YJU2,TMIGD2,FSD1,MPND,SH3GL1,CHAF1A,HDGFL2,PLIN4,LRG1,SEMA6B,TNFAIP8L1,MYDGF,DPP9-AS1,FEM1A,TICAM1,ARRDC5,UHRF1,ZNRF4,TINCR,SAFB2,RPL36,HSD11B1L,LONP1,PRR22,FUT6,FUT3,CAPS,RANBP3,MLLT1,ACER1,ALKBH7,GTF2F1,SLC25A23,DENND1C,CD70,TNFSF14,GPR108,TRIP10,SH2D3A,ADGRE1,ADGRE4P,PEX11G,TEX45,ZNF358,PNPLA6,TRAPPC5,FCER2,CLEC4M,LRRC8E,MAP2K7,TIMM44,CCL25,CD320,RPS28,KANK3,ANGPTL4,MARCH2,HNRNPM,MYO1F,ADAMTS10,LINC01862,ZNF558,OR1M1,ZNF317,ZBTB7A,STAP2,UBXN6,DPP9,PLIN3,KDM4B,SAFB,CATSPERD,NDUFA11,RFX2,ACSBG2,KHSRP,C3,VAV1,ZNF557,INSR,ARHGEF18,CAMSAP3,CLEC4G,EVI5L,ELAVL1,FBN3,CERS4,MUC16,ANKRD24,PTPRS,RAB11B-AS1
 
 krumm_13_ASD_discovery_cases-case12626.p1
 
 
 Paternal
 Simplex
 Not segregated
 ADGRE1,ADGRE4P
 
 krumm_13_ASD_discovery_cases-case12780.p1
 
 
 Paternal
 Simplex
 Not segregated
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 krumm_13_ASD_discovery_cases-case13504.p1
 
 
 Paternal
 Simplex
 Not segregated
 ADGRE1,ADGRE4P
 
 krumm_15_ASD_discovery_cases-case11721.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 krumm_15_ASD_discovery_cases-case12626.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 krumm_15_ASD_discovery_cases-case12780.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 krumm_15_ASD_discovery_cases-case13504.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 ADGRE1,ADGRE4P
 
 levy_11_ASD_discovery_cases-11721.p1
 
 
 Maternal
 Simplex
 Segregated
 FLJ25758,MBD3L2B,ADGRE1,ADGRE4P
 
 pinto_10_ASD_discovery_cases-case1763_311
 Illumina550
 
 paternal
 NA
 NA
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 pinto_10_ASD_discovery_cases-case1950_301
 Illumina550
 
 paternal
 NA
 NA
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 poultney_13_ASD_discovery_cases-case05HI3851A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1516-2A
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 ADGRE1,ADGRE4P
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-264a1
 qPCR
 
 Maternal
 Unknown
 Unknown
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 sanders_11_ASD_discovery_cases-11179.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE4P
 
 sanders_11_ASD_discovery_cases-11721.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 sanders_11_ASD_discovery_cases-12626.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 sanders_11_ASD_discovery_cases-12780.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
 sanders_11_ASD_discovery_cases-13067.p1
 
 
 Maternal
 Simplex (trio)
 NA
 FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019446_
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlB259917_1007874661
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlB266451_1007854349
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlB269904_1007853875
 
 
  Unknown
 
 
  ADGRE1,ADGRE4P,VAV1
 
engchuan_15_ASD_discovery_controls-controlB579510_1007848497
 
 
  Unknown
 
 
  FLJ25758,ADGRE1,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlB931866_1007873677
 
 
  Unknown
 
 
  FLJ25758,ADGRE1,ADGRE4P
 
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_900226_900226
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_900293_900293
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_900785_900785
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_901019_901019
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_901112_901112
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_902453_902453
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_902474_902474
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_902527_902527
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_902561_902561
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
engchuan_15_ASD_discovery_controls-controlHABC_902566_902566
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
krumm_13_ASD_discovery_controls-control11364.s1
 
 
  Paternal
  Simplex
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
krumm_13_ASD_discovery_controls-control12462.s1
 
 
  Maternal
  Simplex
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
krumm_13_ASD_discovery_controls-control12626.s1
 
 
  Paternal
  Simplex
 
  ADGRE1,ADGRE4P
 
krumm_13_ASD_discovery_controls-control12780.s1
 
 
  Paternal
  Simplex
 
  ADGRE1,ADGRE4P
 
krumm_13_ASD_discovery_controls-control13504.s1
 
 
  Paternal
  Simplex
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
krumm_15_ASD_discovery_controls-control11364.s1
  Illumina 1M
 
  Paternal
 
 
  ADGRE1,ADGRE4P
 
krumm_15_ASD_discovery_controls-control12462.s1
  Illumina 1MDuo
 
  Maternal
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
krumm_15_ASD_discovery_controls-control12626.s1
  Illumina 1MDuo
 
  Paternal
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
krumm_15_ASD_discovery_controls-control12780.s1
  Illumina 1MDuo
 
  Paternal
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
poultney_13_ASD_discovery_controls-control04C27774A
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
poultney_13_ASD_discovery_controls-control05C39242A
 
 
  Unknown
 
 
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
sanders_11_ASD_discovery_controls-11364.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
sanders_11_ASD_discovery_controls-12331.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
sanders_11_ASD_discovery_controls-12462.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
sanders_11_ASD_discovery_controls-12626.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 
sanders_11_ASD_discovery_controls-12780.s1
 
 
  Paternal
  Simplex (quad)
  NA
  FLJ25758,MBD3L2B,MBD3L5,MBD3L4,MBD3L2,MBD3L3,ADGRE1,ADGRE4P,ZNF557
 

No Animal Model Data Available
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