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Xq22.2CNV Type: Deletion-Duplication


Largest CNV size: 165671 bp

Statistics Box:
Number of Reports: 13



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
Excess of rare, inherited truncating mutations in autism.
Duplication
Copy number variation in 19 Italian multiplex families with autism spectrum disorder: Importance of synaptic and neurite elongation genes.
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
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
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
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Recurrent 15q11.2 BP1-BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders.
Duplication
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Deletion
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  NA NA
 Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
 45
 The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
 Range, 6 months-25 years
 48.89% Male
 124799
 0
 1
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 219680
 0
 2
 2
 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
 82046
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 76369
 0
 31
 31
 lee_17_ASD/DD/ID/MCA_discovery_cases
 Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
 42
 Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
 Range, newborn-38 yrs.
 69.05% Male
 10132
 1
 0
 1
 lintas_17_ASD_discovery_cases
 ASD cases from 19 Italian ASD multiplex families with either two (N=16) or three (N=3) autistic children
 41
 Cases were assessed with ADOS and ADI-R, Vineland Adaptive Behavior Scales, and either the Wechsler Intelligence Scales for Children (WISC), Griffith Mental Developmental Scales, Colored Raven Matrices, or Leiter International Performance Scale.
 N/A
 87.80% Male
 26487
 0
 1
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
 293
 Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
 Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
 57.5% Male
 67000
 0
 2
 2
 nava_13_ASD_discovery_cases
 Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
 194
 Cases assessed with ADI-R
 N/A
 83.5% Male
 42000
 0
 1
 1
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
 Patients with 15q11.2 CNVs assessed in the Child and Adolescent Neuropsychiatry Unit of Campus Bio-Medico University Hospital in Rome, Italy, from an original cohort of 243 subjects affected by neurodevelopmental disorders and their first-degree relatives
 6
 Neuropsychiatric diagnosis made according to DSM-IV criteria. Instruments used for data collection were Leiter International Performance Scale-Revised (Leiter-R), Wechsler Intelligence Scale for Children-3rd Revision (WISC III), Wechsler Adult Intelligence Scale-3rd edition (WAIS-III), Autism Diagnostic Observation Schedule (ADOS), Autism and Asperger Diagnostic Scale-Revised (RAADS-R), Autism Diagnostic Interview-Revised (ADI-R), Vineland Adaptive Behavior Scales (VABS), and the Child Behavior Checklist (CBCL/6-18)
 Range, 8-19 yrs.
 83.33% Male
 26487
 0
 1
 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
 50144
 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
 58375
 0
 4
 4
 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
 165671
 1
 13
 14
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 320000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 0
 0
 0
 0
 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
 408768
 0
 21
 21
 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)
 50144
 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.
 
 152207
 2
 17
 19

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  France, Belgium
 aCGH, solid phase hybridization
  Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
 
 
 None
 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)
 lee_17_ASD/DD/ID/MCA_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.3.2.0.1252
 None
 lintas_17_ASD_discovery_cases
  Italy
 aCGH
  Agilent Human Genome CGH SurePrint G3 4x180K
 ADM-2
 Agilent Feature Extraction v10.7, Agilent Cytogenomic Software v2.9
 Validation by visual inspection, RT-PCR, or PCR
 maini_18_ASD/DD/ID_discovery_cases
  Italian
 aCGH, array SNP
  Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
 
 
 None
 nava_13_ASD_discovery_cases
  France
 Solid phase hybridization
  Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
 
 GenomeStudio v.2011.1, CNVPartition v.3.1.6
 None
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases
  Italy
 aCGH
  Agilent SurePrint G3 4x180K
 ADM-2
 Agilent Cytogenomic Software v2.7
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by 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
 
 
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  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)
  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
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case31
  NA NA
 4 yrs.
 M
 ASD, developmental delay, learning disabilities, and epilepsy/seizures
 Birth/neonatal history: uneventful prenatal period; birth weight 50th %ile, length 50th %ile, OFC 35th %ile. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD. Epilepsy/seizures: seizures. Brain imaging: delayed myelination. Family history: phenotypically normal mother.
 Learning disabilities
 103924589
 104049400
  124812
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14211_3380
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 103878178
 104086692
  208515
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3619_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 104177843
 104397523
  219681
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004033
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 103630251
 103712297
  82047
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11004.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11129.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 104013169
 104040404
  27236
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11190.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 103964523
 104040898
  76376
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11218.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11325.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11333.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11689.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 103964523
 104040898
  76376
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11869.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 103964523
 104040898
  76376
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11948.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 103964523
 104040898
  76376
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12058.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 103964523
 104040898
  76376
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12295.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040404
  27236
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12377.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12381.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12407.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12788.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12910.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12923.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12975.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13012.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13035.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13038.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13120.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13234.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13297.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13498.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13508.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13510.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 104013169
 104040404
  27236
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13516.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13552.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 104013169
 104040898
  27730
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13710.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 103964523
 104040898
  76376
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13797.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 103965507
 104040898
  75392
 GRCh38
 Duplication
 Yes
  lee_17_ASD/DD/ID/MCA_discovery_cases-case5
 4 yrs.
 M
 Developmental delay
 Developmental delay
 
 103767577
 103777709
  10133
 GRCh38
 Deletion
 No
  lintas_17_ASD_discovery_cases-case6.2
 N/A
 M
 Asperger syndrome
 No additional clinical information available
 
 104007004
 104033500
  26497
 GRCh38
 Duplication
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown237
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 103965839
 104033500
  67662
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown238
  NA NA
 N/A
 N/A
 NDD/MCA/dysmorphic features
 CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
 
 103965839
 104033500
  67662
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam943Proband10737
 N/A
 F
 ASD
 Additional clinical profile info N/A
 No ID
 104007013
 104049400
  42388
 GRCh38
 Duplication
 No
  picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
 N/A
 F
 Intellectual disability and ADHD
 Developmental milestones: motor delay; language delay. Motor and musculoskeletal evaluation: dyspraxia; strabismus. Behavioral/psychiatric evaluation: ADHD; some stereotypic behaviors. Brain imaging: delayed myelination detected on brain MRI. Family history: mild cognitive impairment and langauge delay in the father's cousin's daughter; sister of his maternal grandmother developed a brain tumor.
 Mild intellectual disability (Leiter-R IQ score of 60)
 104007004
 104033500
  26497
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case5368_3
 NA
 M
 ASD
 NA
 NA
 103065826
 103222056
  156231
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case115745L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 103223894
 103274037
  50144
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1450-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 104006383
 104064774
  58392
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 104006383
 104064774
  58392
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-181
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 104006383
 104064774
  58392
 GRCh38
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-258
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 104023079
 104064774
  41696
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11190.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 69; non-verbal IQ, 59; verbal IQ, 59
 103915134
 104090716
  175583
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11207.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 91; verbal IQ, 70
 104004450
 104064774
  60325
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11266.p1
 4.3
 F
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 78
 103426259
 103561185
  134927
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11948.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 62; verbal IQ, 46
 103924589
 104051600
  127012
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12061.p1
 7
 F
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 89; verbal IQ, 101
 104004609
 104051600
  46992
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12072.p1
 15.6
 F
 Autism
 NA
 Full-scale IQ, 139; non-verbal IQ, 116; verbal IQ, 167
 104004609
 104049400
  44792
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12375.p1
 15.9
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 93; verbal IQ, 85
 103552254
 103562530
  10277
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12748.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 93
 103995744
 104064774
  69031
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12923.p1
 4.4
 M
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 100; verbal IQ, 87
 104004609
 104064774
  60166
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12962.p1
 11.3
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 82; verbal IQ, 78
 103978792
 104061963
  83172
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12975.p1
 10.4
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 97; verbal IQ, 78
 103988453
 104064774
  76322
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13035.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 104004609
 104051600
  46992
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13150.p1
 8.1
 F
 Autism
 NA
 Full-scale IQ, 46; non-verbal IQ, 47; verbal IQ, 50
 104004609
 104056370
  51762
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13168.p1
 7.9
 F
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 105; verbal IQ, 103
 104004609
 104050707
  46099
 GRCh38
 Duplication
 No
  tzetis_12_DD/ID_discovery_cases-case66
 
 M
 DD/ID
 Severe features of Pelizaeus-Merzbacher syndrome
 
 103499807
 103820412
  320606
 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
  krumm_15_ASD_discovery_controls-control11004.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11037.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  103964523
  104040898
  76376
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11301.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11309.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11325.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11348.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040404
  27236
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11397.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11437.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040404
  27236
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11445.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11768.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104250227
  104658995
  408769
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11909.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040404
  27236
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11959.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12029.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12840.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12923.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13036.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  103964522
  104105257
  140736
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13104.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13234.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13456.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13552.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  104013169
  104040898
  27730
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13710.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  103964523
  104040898
  76376
  GRCh38
  Duplication
  Yes
  sanders_11_ASD_discovery_controls-11004.s1
  10.3
  M
  Control (matched sibling)
  NA
  NA
  103995744
  104064774
  69031
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11037.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  103924589
  104050707
  126119
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11051.s1
  9.6
  F
  Control (matched sibling)
  NA
  NA
  104004450
  104050707
  46258
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11093.s1
  9.8
  M
  Control (matched sibling)
  NA
  NA
  103995744
  104054732
  58989
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11120.s1
  11.3
  F
  Control (matched sibling)
  NA
  NA
  103554243
  103562530
  8288
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11266.s1
  5.8
  F
  Control (matched sibling)
  NA
  NA
  103424699
  103554243
  129545
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11301.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  104004450
  104050707
  46258
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11309.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  104004450
  104050707
  46258
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  104004609
  104051600
  46992
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11325.s1
  12.3
  M
  Control (matched sibling)
  NA
  NA
  103978792
  104064774
  85983
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11436.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  104004450
  104054732
  50283
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11485.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  103924589
  104054732
  130144
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11828.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  103924589
  103968956
  44368
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12923.s1
  5.8
  M
  Control (matched sibling)
  NA
  NA
  103988453
  104064774
  76322
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13001.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  103552254
  103562530
  10277
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13006.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  104004609
  104051600
  46992
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13012.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  104004609
  104056370
  51762
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13036.s1
  10.2
  F
  Control (matched sibling)
  NA
  NA
  103924589
  104086692
  162104
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13168.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  104004609
  104049400
  44792
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case31
 
 
 Unknown
 
 Unknown
 DPPA3P1,H2BFWT,H2BFM
 
 engchuan_15_ASD_discovery_cases-case14211_3380
 
 
 Unknown
 
 
 TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,TMSB15B
 
 engchuan_15_ASD_discovery_cases-case3619_3
 
 
 Unknown
 
 
 FAM199X,ESX1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004033
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 MORF4L2-AS1,TMEM31,TCEAL1,GLRA4,MORF4L2
 
 krumm_15_ASD_discovery_cases-case11004.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case11129.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case11190.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case11218.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case11325.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case11333.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case11689.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case11869.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case11948.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12058.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12295.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12377.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12381.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12407.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12788.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12910.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12923.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case12975.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13012.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13035.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13038.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13120.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13234.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13297.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13498.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13508.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13510.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13516.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13552.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13710.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 H2BFWT,H2BFM
 
 krumm_15_ASD_discovery_cases-case13797.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 H2BFWT,H2BFM
 
 lee_17_ASD/DD/ID/MCA_discovery_cases-case5
 
 
 Unknown
 
 
 PLP1
 
 lintas_17_ASD_discovery_cases-case6.2
 Validation by visual inspection, RT-PCR, or PCR
 
 Paternal
 Multiplex
 Not segregated (CNV only observed in 1/2 affected siblings)
 H2BFWT
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown237
 
 
 Maternal
 Unknown
 Unknown
 H2BFWT
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown238
 
 
 Maternal
 Unknown
 Unknown
 H2BFWT
 
 nava_13_ASD_discovery_cases-Fam943Proband10737
 
 
 Unknown
 Simplex
 Unknown
 H2BFWT,H2BFM
 
 picinelli_16_ASD/ADHD/DD/ID_discovery_cases-patient5
 
 
 Paternal
 Multi-generational
 Unknown
 H2BFWT
 
 pinto_10_ASD_discovery_cases-case5368_3
 Agilent1M
 
 maternal
 NA
 NA
 H2BFWT,H2BFXP,TMSB15B,MCART6
 
 prasad_12_ASD_discovery_cases-case115745L
 
 
 Unknown
 Unknown
 Unknown
 MCART6,ZCCHC18
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1450-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 H2BFWT,H2BFM,TMSB15B
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1639-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 H2BFWT,H2BFM,TMSB15B
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR04-181
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 H2BFWT,H2BFM,TMSB15B
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-258
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 H2BFM,TMSB15B
 
 sanders_11_ASD_discovery_cases-11190.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 TMSB15B-AS1,DPPA3P1,H2BFWT,H2BFM,TMSB15B
 
 sanders_11_ASD_discovery_cases-11207.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 H2BFWT,H2BFM,TMSB15B
 
 sanders_11_ASD_discovery_cases-11266.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RAB40A
 
 sanders_11_ASD_discovery_cases-11948.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 DPPA3P1,H2BFWT,H2BFM
 
 sanders_11_ASD_discovery_cases-12061.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 H2BFWT,H2BFM
 
 sanders_11_ASD_discovery_cases-12072.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 H2BFWT,H2BFM
 
 sanders_11_ASD_discovery_cases-12375.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12748.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 H2BFWT,H2BFM,TMSB15B
 
 sanders_11_ASD_discovery_cases-12923.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 H2BFWT,H2BFM,TMSB15B
 
 sanders_11_ASD_discovery_cases-12962.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 H2BFWT,H2BFM
 
 sanders_11_ASD_discovery_cases-12975.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 H2BFWT,H2BFM,TMSB15B
 
 sanders_11_ASD_discovery_cases-13035.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 H2BFWT,H2BFM
 
 sanders_11_ASD_discovery_cases-13150.p1
 
 
 Paternal
 Simplex (trio)
 NA
 H2BFWT,H2BFM
 
 sanders_11_ASD_discovery_cases-13168.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 H2BFWT,H2BFM
 
 tzetis_12_DD/ID_discovery_cases-case66
 
 
 Maternal
 Unknown
 
 TCEAL3-AS1,MORF4L2-AS1,TMEM31,RAB40A,TCEAL4,TCEAL3,TCEAL1,GLRA4,PLP1,MORF4L2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control11004.s1
  Illumina 1M
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11037.s1
  Illumina 1M
 
  Paternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11301.s1
  Illumina 1M
 
  Paternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11309.s1
  Illumina 1M
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11325.s1
  Illumina 1M
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11348.s1
  Illumina 1M
 
  Paternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11397.s1
  Illumina 1M
 
  Paternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11437.s1
  Illumina 1M
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11445.s1
  Illumina 1M
 
  Paternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11768.s1
  Illumina 1MDuo
 
  Maternal
 
 
  PHBP10,ESX1,IL1RAPL2
 
krumm_15_ASD_discovery_controls-control11909.s1
  Illumina 1MDuo
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control11959.s1
  Illumina 1MDuo
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control12029.s1
  Illumina 1MDuo
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control12840.s1
  1M-Duov3
 
  Paternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control12923.s1
  Illumina 1MDuo
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control13036.s1
  Illumina 1MDuo
 
  Paternal
 
 
  H2BFWT,H2BFM,SLC25A53,TMSB15B
 
krumm_15_ASD_discovery_controls-control13104.s1
  Illumina 1MDuo
 
  Paternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control13234.s1
  1M-Duov3
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control13456.s1
  1M-Duov3
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control13552.s1
  1M-Duov3
 
  Maternal
 
 
  H2BFWT,H2BFM
 
krumm_15_ASD_discovery_controls-control13710.s1
  Omni2.5-4v1
 
  Maternal
 
 
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11004.s1
 
 
  Unknown
  Simplex (quad)
  NA
  H2BFWT,H2BFM,TMSB15B
 
sanders_11_ASD_discovery_controls-11037.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DPPA3P1,H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11051.s1
 
 
  Paternal
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11093.s1
 
 
  Unknown
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11120.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11266.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RAB40A
 
sanders_11_ASD_discovery_controls-11301.s1
 
 
  Paternal
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11309.s1
 
 
  Maternal
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Paternal
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11325.s1
 
 
  Unknown
  Simplex (quad)
  NA
  H2BFWT,H2BFM,TMSB15B
 
sanders_11_ASD_discovery_controls-11436.s1
 
 
  Maternal
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11485.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DPPA3P1,H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-11828.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DPPA3P1
 
sanders_11_ASD_discovery_controls-12923.s1
 
 
  Unknown
  Simplex (quad)
  NA
  H2BFWT,H2BFM,TMSB15B
 
sanders_11_ASD_discovery_controls-13001.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13006.s1
 
 
  Paternal
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-13012.s1
 
 
  Maternal
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 
sanders_11_ASD_discovery_controls-13036.s1
 
 
  Paternal
  Simplex (quad)
  NA
  DPPA3P1,H2BFWT,H2BFM,TMSB15B
 
sanders_11_ASD_discovery_controls-13168.s1
 
 
  Paternal
  Simplex (quad)
  NA
  H2BFWT,H2BFM
 

No Animal Model Data Available
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