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Xp22.2CNV Type: Deletion-Duplication


Largest CNV size: 827046 bp

Statistics Box:
Number of Reports: 18



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
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Duplication
NA
Duplication
NA
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
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders an...
Duplication
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
NA
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 annunziata_21_ASD_discovery_cases
  NA NA
 Cases referred between 2008 and 2015 to the Developmental Neurology Unit of the Fondazione IRCCS Istituto Neurologico Carlo Besta (Milan, Italy)
 209
 Cases given a clinical diagnosis of ASD according to DSM-5 criteria and confirmed by ADOS-Generic or ADOS-2 and/or ADI-R
 Range, 2-17 yrs. (Mean, 5 yrs. 8 mos. 3 yrs. 5 mos.)
 80.86% Male
 494991
 0
 1
 1
 asadollahi_14_NDD_discovery_cases
 Patients screened for rare non-polymorphic exonic CNVs sizing 1-500 kb
 714
 Patients with undiagnosed neurodevelopmental disorders (NDD) with or without further congenital anomalies
 N/A
 N/A
 73000
 1
 0
 1
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 510000
 0
 1
 1
 costa_21_ASD_discovery_cases
  NA NA
 ASD probands referred to the Centro de Estudos sobre o Genoma Humano e Celulas-tronco (CEGH-CEL, Instituto de Biociencias (IB), Universidade de Sao Paulo, USP) between 2009 and 2018.
 144
 Cases diagnosed with ASD by psychiatrists or neurologists based on the Diagnostic and Statistical Manual of Mental Disorders (DSM)-IV or DSM-5.
 Range, 1-34 yrs. (mean, 7.7 yrs.)
 77.08% Male
 560541
 0
 1
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 908000
 0
 2
 2
 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
 827045
 1
 4
 5
 fitzgerald_14_ASD/DD/ID_discovery_cases
 Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
 1133
 Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
 Median age, 5.5 years
 N/A
 351
 0
 1
 1
 iourov_12_ASD/ID/EP_discovery_cases
 Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
 54
 Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
 Range, 3 mos.-11 yrs.
 NA
 170000
 1
 0
 1
 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
 974682
 1
 9
 10
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 563022
 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
 222000
 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
 465000
 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
 
 
 827046
 1
 3
 4
 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
 137533
 1
 6
 7
 roberts_13_ASD/DD/ID_discovery_cases
 Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
 215
 ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
 Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
 65.12% Male
 463000
 0
 1
 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
 31053
 9
 0
 9
 sansovic_17_DD/ID/ASD_discovery_cases
 Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
 337
 Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
 Mean, 7 years (range, 1 month-25 years)
 N/A
 221000
 1
 0
 1
 willemsen_12_DD/ID_discovery_cases
 Individuals referred between Jan. 2003 and August 2010 to diagnostic center at Dept. of Human Genetics, Radboud Univ. Mijmegen Medical Centre, Nijmegen, The Netherlands for genome-wide array analysis (emphasis on X chromosome CNVs)
 4407
 Majority of cases: indication of developmental delay/intellectual disability [with or without other neuropsychiatric disorders (ASD, ADHD, etc.) and/or congenital anomalies]. Minority of cases: congenital anomalies or behavioral problems without DD/ID.
 2/3 of cases: age range of 1-18 yrs.
 54.5% Male
 400000
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 christian_08_ASD_discovery_controls
 Control subjects from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
 372
 Controls
 
 
 510000
 0
 0
 0
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 334137
 1
 11
 12
 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
 359933
 0
 4
 4
 leblond_19_ASD_discovery_controls
 Control cohort consisting of 136 unaffected relatives of ASD cases and 185 non-autism controls
 321
 Control
 N/A
 N/A
 12770
 0
 1
 1
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 520322
 0
 3
 3
 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)
 137533
 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.
 
 450889
 15
 3
 18

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 annunziata_21_ASD_discovery_cases
  Italy
 aCGH
  BlueGnome ISCA180K (Agilent)
 
 BlueGnome Bluefuse
 qPCR, FISH
 asadollahi_14_NDD_discovery_cases
  Predominantly European
 Array SNP
  Affymetrix 6.0, Affymetrix Cytogenetics 2.7, Affymetrix CytoScan HD
 HMM
 Affymetrix ChAS v.1.0.1
 MLPA
 christian_08_ASD_discovery_cases
  235 White/Not Hispanic, 28 White/Hispanic, 9 Asians, 4 Blacks, 14 Mixed/Not Hispanic, 7 Mixed/Hispanic, 98 Unknown
 aCGH
  RPCI 19K BAC microarray
 
 
 FISH, microsatellite, qPCR
 costa_21_ASD_discovery_cases
  Brazil
 aCGH
  Agilent 180K
 NA
 Agilent Genomic Workbench
 aCGH (Agilent 180K)
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 fitzgerald_14_ASD/DD/ID_discovery_cases
  UK and Ireland
 aCGH, WES
  Agilent 2x1M, Agilent Exome+
 
 Cnsolidate, CoNVex
 None
 iourov_12_ASD/ID/EP_discovery_cases
  Russian
 aCGH
  BACs aCGH
 
 
 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)
 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
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 qPCR
 roberts_13_ASD/DD/ID_discovery_cases
  N/A
 aCGH
  105K or 180K oligonucleotide microarray
 
 Nexus Copy Number (BioDiscovery)
 BACs aCGH or FISH
 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
 
 
 sansovic_17_DD/ID/ASD_discovery_cases
  Croatia
 aCGH
  Agilent SurePrint G3 Unrestricted CGH ISCA v2
 
 Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
 None
 willemsen_12_DD/ID_discovery_cases
  Netherlands
 aCGH, array SNP
  Agilent 32K BAC array, Affymetrix 250K
 
 CNAG V2.0 (SNP array)
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  christian_08_ASD_discovery_controls
  262 Caucasians, 100 African-Americans
  aCGH
  RPCI 19K BAC microarray
 
 
 
  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)
  leblond_19_ASD_discovery_controls
  Faroe Islands
  Solid phase hybridization, WES
  Illumina Infinium IlluminaOmni5-4 BeadChip, AgilentSureSelect Human All Exon V5
  PennCNV, QuantiSNP
  XHMM
  None
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  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
  annunziata_21_ASD_discovery_cases-caseIB281
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD; no additional clinical information available.
 Cognitive profile NA
 11674198
 12169188
  494991
 GRCh38
 Duplication
 Yes
  asadollahi_14_NDD_discovery_cases-case62915
 N/A
 F
 NDD
 Case with unspecified neurodevelopmental disorder
 
 16603502
 16677444
  73943
 GRCh38
 Deletion
 Yes
  christian_08_ASD_discovery_cases-AU070908
 NA
 F
 ASD
 NA
 NA
 10083097
 10594855
  511759
 GRCh38
 Duplication
 Yes
  costa_21_ASD_discovery_cases-caseP32
  NA NA
 NA
 M
 ASD
 Case diagnosed with ASD based on DSM-IV or DSM-5 criteria. Additional clinical features: speech delay, mild hearing loss, irritability, food selectivity.
 
 15946116
 16506656
  560541
 GRCh38
 Duplication
 Yes
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299921
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 
 
 13621917
 14529977
  908061
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300103
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 11240104
 11903527
  663424
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case1265_8
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 10003776
 10830821
  827046
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14143_2410
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 15693086
 15771769
  78684
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5519_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 13865216
 14019253
  154038
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6239_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 11396457
 11490657
  94201
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case6323_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 14675094
 14818077
  142984
 GRCh38
 Deletion
 No
  fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260346
 N/A
 M
 Dysmorphic features
 Bilateral cleft lip and palate; Ventricular septal defect; Aortic regurgitation; Laryngomalacia; Hypertelorism; Upslanted palpebral fissure; Widows peak
 
 10522948
 10523299
  352
 GRCh38
 Duplication
 No
  iourov_12_ASD/ID/EP_discovery_cases-case39
 3 yrs.
 F
 Developmental delay/intellectual disability
 Hydrocephaly, seizures, facial dysmorphisms. Karyotype: 16qh-, 16qh-.
 Developmental delay/intellectual disability
 10385846
 10555846
  170001
 GRCh38
 Deletion
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001126
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 11038216
 11190005
  151790
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001741
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 11658644
 12174505
  515862
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002400
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 12988378
 13963060
  974683
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002471
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 13325258
 13744416
  419159
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002703
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 11104475
 11121622
  17148
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002731
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 10759076
 11065570
  306495
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003870
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 12169159
 12615106
  445948
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004214
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 11803888
 12169218
  365331
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005321
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 11240104
 11903527
  663424
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005428
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 10433348
 10502326
  68979
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13425.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 15289503
 15852524
  563022
 GRCh38
 Duplication
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown224
  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)
 
 11114952
 11197000
  82049
 GRCh38
 Duplication
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown225
  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)
 
 15561395
 15783454
  222060
 GRCh38
 Duplication
 No
  nava_13_ASD_discovery_cases-Fam1122Proband10785
 19 yrs. 7 mos.
 M
 ASD
 Developmental milestones: age of walking of <2 yrs, langauge delay. Epilepsy/seizures: yes (generalized). Neurological examination: hands shaking. Other features: GERD. Dysmorphic features: none. Growth parameters: height -0.5 SD, weight +1 SD, head circumference +2 SD.
 ID (moderate-to-severe)
 11089949
 11554871
  464923
 GRCh38
 Duplication
 No
  pinto_10_ASD_discovery_cases-case1265_8
 NA
 F
 ASD
 NA
 NA
 10003776
 10830821
  827046
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5519_3
 NA
 F
 ASD
 NA
 NA
 13865216
 14019253
  154038
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case6239_3
 NA
 M
 Autism
 No language, strabism, no dysmorphic features, no epilepsy
 Severe MR
 11396457
 11490657
  94201
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case6323_3
 NA
 M
 Autism
 Language delay, bilateral myopia, normal physical exam, no epilepsy
 Normal IQ
 14675094
 14818077
  142984
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case138820
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 10714898
 10736495
  21598
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case157610
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 16688233
 16707403
  19171
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case55310
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 16688233
 16707403
  19171
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case58294L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 16688233
 16707403
  19171
 Unknown
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case59272L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 16450499
 16461969
  11471
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case74431
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 11155719
 11168345
  12627
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case98321L
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 13794606
 13932138
  137533
 Unknown
 Duplication
 No
  roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase29
 7 yrs.
 M
 Learning disability (developmental delay/intellectual disability)
 No reported clinical features
 
 13409015
 13872480
  463466
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11086.p1
 7.4
 F
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 82; verbal IQ, 93
 10480284
 10511337
  31054
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11160.p1
 6.9
 F
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 119; verbal IQ, 99
 16329774
 16336406
  6633
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11234.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 118; non-verbal IQ, 117; verbal IQ, 115
 16329774
 16336406
  6633
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11466.p1
 9.2
 M
 Aspergers
 NA
 Full-scale IQ, 121; non-verbal IQ, 121; verbal IQ, 113
 16329774
 16336406
  6633
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11599.p1
 6.6
 M
 Autism
 NA
 Full-scale IQ, 105; non-verbal IQ, 106; verbal IQ, 99
 16329774
 16336406
  6633
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11775.p1
 9.7
 M
 Autism
 NA
 Full-scale IQ, 39; non-verbal IQ, 45; verbal IQ, 26
 16329774
 16336406
  6633
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11964.p1
 12.4
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 40; verbal IQ, 39
 16377579
 16378351
  773
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13153.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 86; verbal IQ, 59
 12278115
 12278578
  464
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13193.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 86; verbal IQ, 81
 16329774
 16336406
  6633
 GRCh38
 Deletion
 No
  sansovic_17_DD/ID/ASD_discovery_cases-case101
 10 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
 
 13927593
 14149191
  221599
 GRCh38
 Deletion
 No
  willemsen_12_DD/ID_discovery_cases-case24
 
 M
 Intellectual disability
 ID, extrapyramidal disorder, dysmorphism
 Intellectual disability
 15881956
 16331956
  450001
 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-controlB257988_1007841389
  N/A
  N/A
  Control
  No previous psychiatric history
 
  15644812
  15702202
  57391
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB290777_1007875864
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16714108
  16744461
  30354
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB309173_1007854770
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11838283
  12012826
  174544
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB634283_1007846481
  N/A
  N/A
  Control
  No previous psychiatric history
 
  12622350
  12956487
  334138
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB777562_1007846115
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10255819
  10337289
  81471
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB889239_1007844977
  N/A
  N/A
  Control
  No previous psychiatric history
 
  15587729
  15787668
  199940
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB923510_1007875812
  N/A
  N/A
  Control
  No previous psychiatric history
 
  10202697
  10482872
  280176
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900402_900402
  N/A
  N/A
  Control
  No previous psychiatric history
 
  11110292
  11141541
  31250
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
  N/A
  N/A
  Control
  No previous psychiatric history
 
  15612757
  15673559
  60803
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902470_902470
  N/A
  N/A
  Control
  No previous psychiatric history
 
  16229038
  16408121
  179084
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13705027
  13772214
  67188
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
  N/A
  N/A
  Control
  No previous psychiatric history
 
  13839805
  13921256
  81452
  GRCh38
  Duplication
  No
  krumm_15_ASD_discovery_controls-control12078.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  11098348
  11121810
  23463
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13585.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  15750023
  15775308
  25286
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13980.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  15589343
  15764775
  175433
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14253.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  9873651
  10233584
  359934
  GRCh38
  Duplication
  Yes
  leblond_19_ASD_discovery_controls-controlPN400372
  N/A
  F
  Control
  Non-autism control
 
  14008828
  14021598
  12771
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27173
 
 
  Control
 
 
  11473980
  11994301
  520322
  Unknown
  Duplication
 
  nord_11_ASD_discovery_controls-04C28209
 
 
  Control
 
 
  12601007
  12659418
  58412
  Unknown
  Duplication
 
  nord_11_ASD_discovery_controls-04C28263
 
 
  Control
 
 
  12486977
  12681485
  194509
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11198.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  16329774
  16336406
  6633
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11501.s1
  13.4
  M
  Control (matched sibling)
  NA
  NA
  16329774
  16336406
  6633
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11502.s1
  13.2
  M
  Control (matched sibling)
  NA
  NA
  10592238
  10659908
  67671
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11521.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  16329774
  16336406
  6633
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11622.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  13282253
  13541697
  259445
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  11406730
  11441800
  35071
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11793.s1
  11.1
  F
  Control (matched sibling)
  NA
  NA
  11957603
  12071934
  114332
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11869.s1
  5.5
  F
  Control (matched sibling)
  NA
  NA
  16329774
  16336406
  6633
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12057.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  10766997
  10770418
  3422
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12184.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  10006400
  10041158
  34759
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12373.s1
  11.7
  F
  Control (matched sibling)
  NA
  NA
  10687525
  10727540
  40016
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12375.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  12002026
  12071934
  69909
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12380.s1
  17
  F
  Control (matched sibling)
  NA
  NA
  11242406
  11256034
  13629
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12518.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  11336231
  11355367
  19137
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12532.s1
  9
  F
  Control (matched sibling)
  NA
  NA
  12045513
  12496402
  450890
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13080.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  16329774
  16336406
  6633
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13193.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  16329774
  16336406
  6633
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13327.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  11941517
  12071934
  130418
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 annunziata_21_ASD_discovery_cases-caseIB281
 qPCR, FISH
 
 Maternal
 
 
 LIMK2P1,FRMPD4,MSL3
 
 asadollahi_14_NDD_discovery_cases-case62915
 MLPA
 
 Maternal
 Unknown
 Unknown
 MIR548AM,S100G,CTPS2
 
 christian_08_ASD_discovery_cases-AU070908
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 RNU6-800P,WWC3,CLCN4,MID1
 
 costa_21_ASD_discovery_cases-caseP32
 aCGH (Agilent 180K)
 
 Maternal
 
 
 RPL6P30,GRPR,MAGEB17
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299921
 
 
 Maternal
 
 
 TCEANC,RAB9A,TRAPPC2,OFD1,GPM6B,GEMIN8,EGFL6,GLRA2
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300103
 
 
 Maternal
 
 
 AMELX,MIR548AX,MSL3,ARHGAP6
 
 engchuan_15_ASD_discovery_cases-case1265_8
 
 
 Unknown
 
 
 RNU6-800P,WWC3-AS1,WWC3,CLCN4,MID1
 
 engchuan_15_ASD_discovery_cases-case14143_2410
 
 
 Unknown
 
 
 CA5BP1,CA5B
 
 engchuan_15_ASD_discovery_cases-case5519_3
 
 
 Unknown
 
 
 GPM6B,GEMIN8
 
 engchuan_15_ASD_discovery_cases-case6239_3
 
 
 Unknown
 
 
 ARHGAP6
 
 engchuan_15_ASD_discovery_cases-case6323_3
 
 
 Unknown
 
 
 GLRA2
 
 fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER260346
 
 Maternal
 Maternal
 Multi-generational
 Possibly segregated
 MID1
 
 iourov_12_ASD/ID/EP_discovery_cases-case39
 
 
 Unknown
 Unknown
 Unknown
 MID1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001126
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 HCCS,ARHGAP6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001741
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MSL3,ARHGAP6,FRMPD4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002400
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 GS1-600G8.3,GPX1P1,RPL30P15,MIR6086,RN7SKP20,FAM9C,LINC02154,ATXN3L,TCEANC,RAB9A,TRAPPC2,LINC01203,OFD1,GPM6B,EGFL6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002471
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 GPX1P1,RPL30P15,MIR6086,RN7SKP20,TCEANC,RAB9A,TRAPPC2,LINC01203,OFD1,EGFL6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002703
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 HCCS
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002731
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MID1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003870
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FRMPD4-AS1,RPL17P49,RN7SKP290,FRMPD4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004214
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 FRMPD4
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005321
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 AMELX,MIR548AX,MSL3,ARHGAP6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005428
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Maternal
 Unknown
 Unknown
 MID1
 
 krumm_15_ASD_discovery_cases-case13425.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 INE2,ASB11,VEGFD,GS1-594A7.3,CLTRN,CA5BP1,ZRSR2,AP1S2,PIGA,PIR,BMX,ACE2,CA5B
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown224
 
 
 Unknown
 Unknown
 Unknown
 HCCS,ARHGAP6
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown225
 
 
 Unknown
 Unknown
 Unknown
 GS1-594A7.3,CLTRN,CA5BP1,ACE2,CA5B
 
 nava_13_ASD_discovery_cases-Fam1122Proband10785
 
 
 Maternal
 Simplex
 Unknown
 HCCS,AMELX,MIR548AX,ARHGAP6
 
 pinto_10_ASD_discovery_cases-case1265_8
 Illumina550;Affy5.0
 
 paternal
 NA
 NA
 RNU6-800P,WWC3-AS1,WWC3,CLCN4,MID1
 
 pinto_10_ASD_discovery_cases-case5519_3
 Agilent1M
 
 paternal
 NA
 NA
 GPM6B,GEMIN8
 
 pinto_10_ASD_discovery_cases-case6239_3
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 ARHGAP6
 
 pinto_10_ASD_discovery_cases-case6323_3
 qPCR-Maternal
 
 maternal
 Simplex
 NA
 GLRA2
 
 prasad_12_ASD_discovery_cases-case138820
 
 
 Unknown
 Unknown
 Unknown
 MID1
 
 prasad_12_ASD_discovery_cases-case157610
 
 
 Unknown
 Unknown
 Unknown
 SYAP1
 
 prasad_12_ASD_discovery_cases-case55310
 qPCR
 
 Maternal
 Simplex
 Segregated
 SYAP1
 
 prasad_12_ASD_discovery_cases-case58294L
 qPCR
 
 Maternal
 Simplex
 Not segregated (duplication present in unaffected sibling)
 SYAP1
 
 prasad_12_ASD_discovery_cases-case59272L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case74431
 
 
 Unknown
 Unknown
 Unknown
 ARHGAP6
 
 prasad_12_ASD_discovery_cases-case98321L
 
 
 Unknown
 Unknown
 Unknown
 GPM6B
 
 roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase29
 BACs aCGH or FISH
 
 Maternal
 Unknown
 Unknown
 RPL30P15,MIR6086,RN7SKP20,TCEANC,RAB9A,TRAPPC2,OFD1,GPM6B,EGFL6
 
 sanders_11_ASD_discovery_cases-11086.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 MID1
 
 sanders_11_ASD_discovery_cases-11160.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11234.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11466.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11599.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11775.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11964.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 FRMPD4
 
 sanders_11_ASD_discovery_cases-13193.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sansovic_17_DD/ID/ASD_discovery_cases-case101
 
 
 De novo
 
 
 GPM6B,GEMIN8
 
 willemsen_12_DD/ID_discovery_cases-case24
 
 
 Maternal
 
 
 RNU5F-7P,SETP15,RPL6P30,GRPR,MAGEB17
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB257988_1007841389
 
 
  Unknown
 
 
  CLTRN,CA5BP1,CA5B
 
engchuan_15_ASD_discovery_controls-controlB290777_1007875864
 
 
  Unknown
 
 
  SYAP1
 
engchuan_15_ASD_discovery_controls-controlB309173_1007854770
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB634283_1007846481
 
 
  Unknown
 
 
  PSMA6P2,TLR8-AS1,PRPS2,TLR7,TLR8,MRPL35P4,FRMPD4
 
engchuan_15_ASD_discovery_controls-controlB777562_1007846115
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB889239_1007844977
 
 
  Unknown
 
 
  INE2,GS1-594A7.3,CLTRN,CA5BP1,ACE2,CA5B
 
engchuan_15_ASD_discovery_controls-controlB923510_1007875812
 
 
  Unknown
 
 
  CLCN4,MID1
 
engchuan_15_ASD_discovery_controls-controlHABC_900402_900402
 
 
  Unknown
 
 
  HCCS,ARHGAP6
 
engchuan_15_ASD_discovery_controls-controlHABC_900575_900575
 
 
  Unknown
 
 
  GS1-594A7.3,CLTRN
 
engchuan_15_ASD_discovery_controls-controlHABC_902470_902470
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
 
 
  Unknown
 
 
  RAB9A,TRAPPC2,OFD1,GPM6B
 
engchuan_15_ASD_discovery_controls-controlHABC_902971_902971
 
 
  Unknown
 
 
  GPM6B
 
krumm_15_ASD_discovery_controls-control12078.s1
  Illumina 1MDuo
 
  Paternal
 
 
  HCCS
 
krumm_15_ASD_discovery_controls-control13585.s1
  1M-Duov3
 
  Maternal
 
 
  CA5B
 
krumm_15_ASD_discovery_controls-control13980.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GS1-594A7.3,CLTRN,CA5BP1,ACE2,CA5B
 
krumm_15_ASD_discovery_controls-control14253.s1
  Omni2.5-4v1
 
  Maternal
 
 
  CLDN34,WWC3-AS1,SHROOM2,WWC3,CLCN4
 
leblond_19_ASD_discovery_controls-controlPN400372
 
 
  Unknown
 
 
  GEMIN8
 
nord_11_ASD_discovery_controls-04C27173
 
 
 
 
 
  MSL3,ARHGAP6
 
nord_11_ASD_discovery_controls-04C28209
 
 
 
 
 
  FRMPD4
 
nord_11_ASD_discovery_controls-04C28263
 
 
 
 
 
  FRMPD4
 
sanders_11_ASD_discovery_controls-11198.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11501.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11502.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MID1
 
sanders_11_ASD_discovery_controls-11521.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11622.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GS1-600G8.3,GPX1P1,LINC02154,ATXN3L,LINC01203
 
sanders_11_ASD_discovery_controls-11712.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ARHGAP6
 
sanders_11_ASD_discovery_controls-11793.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11869.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12057.s1
 
 
  Both parents
  Simplex (quad)
  NA
  MID1
 
sanders_11_ASD_discovery_controls-12184.s1
 
 
  Paternal
  Simplex (quad)
  NA
  WWC3-AS1,WWC3
 
sanders_11_ASD_discovery_controls-12373.s1
 
 
  Unknown
  Simplex (quad)
  NA
  MID1
 
sanders_11_ASD_discovery_controls-12375.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12380.s1
 
 
  Both parents
  Simplex (quad)
  NA
  ARHGAP6
 
sanders_11_ASD_discovery_controls-12518.s1
 
 
  Paternal
  Simplex (quad)
  NA
  ARHGAP6
 
sanders_11_ASD_discovery_controls-12532.s1
 
 
  Maternal
  Simplex (quad)
  NA
  FRMPD4-AS1,RPL17P49,FRMPD4
 
sanders_11_ASD_discovery_controls-13080.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13193.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13327.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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