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11q13.4CNV Type: Deletion-Duplication


Largest CNV size: 182755 bp

Statistics Box:
Number of Reports: 15



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...
Duplication
Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability.
Duplication
The clinical significance of small copy number variants in neurodevelopmental disorders.
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Routine Chromosomal Microarray Analysis is Necessary in Korean Patients With Unexplained Developmental Delay/Mental Retardation/Autism Spectrum Dis...
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 9000
 1
 0
 1
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 138867
 1
 0
 1
 celestino-soper_11_ASD_discovery_cases
 ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
 99
 ASD
 
 87.88% Male
 73
 1
 0
 1
 egger_14_ASD_discovery_cases
 ASD probands from Austria (71 simplex, 2 multiplex) recruited from the catchment area of Styria using three recruitment sites (Institute of Human Genetics, Medical University of Graz, Club Libelle, Center for Autism, Styria, and Children's Hospital, University Hospital Graz).
 73
 Diagnosis of ASD made using ADOS and ADI-R according to DSM-IV or DSM-V categories
 N/A
 80.82% Male
 330895
 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
 150406
 1
 1
 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
 532046
 0
 2
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 5282
 2
 0
 2
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 182755
 1
 1
 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)
 28221
 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
 10946
 1
 0
 1
 qiao_12_ASD/ID_discovery_cases
 Cohort recruited through Autism Spectrum Interdisciplinary Research (ASPIRE) program of the University of Britisn Columbia Provincial Medical Genetics Program in Vancouver, Canada (ASD-CARC)
 52
 ASD and/or ID (intellectual disability)
 NA
 NA
 78597
 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
 111081
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 75384
 2
 5
 7
 shin_15_ASD/DD/ID_discovery_cases
 Patients with normal karyotype referred for further genetic testing from March 2012-April 2014
 96
 34 cases with ASD, 54 cases with DD/ID, 8 cases with ASD and DD/ID
 N/A
 69.8% Male
 753000
 0
 1
 1
 yuen_17_ASD_discovery_cases
 ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
 2626
 ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
 N/A
 78.71% Male
 138865
 2
 0
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 egger_14_ASD_discovery_controls
 CNV data from POPGEN (n=1,123) and the Ottawa Heart Institute (n=1,234)
 2357
 Control
 N/A
 N/A
 0
 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
 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
 963
 1
 0
 1
 levy_11_ASD_discovery_controls
 Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
 863
 Control
 
 47.97% Male
 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)
 23881
 0
 1
 1
 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)
 10946
 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.
 
 129281
 2
 1
 3

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 celestino-soper_11_ASD_discovery_cases
 
 aCGH
  Agilent 1M
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
 None
 egger_14_ASD_discovery_cases
  68 European, 2 Asian, 1 African, 1 Turkish, 1 Egyptian
 Array SNP
  Affymetrix 6.0
 Birdsuite, iPattern, Affymetrix Genotyping Console
 
 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)
 levy_11_ASD_discovery_cases
 
 aCGH
  NimbleGen HD2
 HMM
 
 
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 qiao_12_ASD/ID_discovery_cases
  Canadian
 Array SNP
  Affymetrix 2.7M
 
 Affymetrix ChAS v.1.1
 QMPSF
 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
 
 
 shin_15_ASD/DD/ID_discovery_cases
  Korean
 Array SNP
  Affymetrix CytoScan 750K
 
 Affymetrix ChAS v.2.1, Nexus Copy Number v.7.5 (BioDiscovery)
 None
 yuen_17_ASD_discovery_cases
  N/A
 WGS
  Complete Genomics, Illumina HiSeq 2000, HiSeq X
 
 
 aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  egger_14_ASD_discovery_controls
  European
  N/A
  N/A
 
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  levy_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  HMM
 
 
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
  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
  asadollahi_14_NDD_discovery_cases-case68629
 N/A
 M
 NDD
 Case with unspecified neurodevelopmental disorder
 
 75181245
 75190692
  9448
 GRCh38
 Deletion
 Yes
  brandler_18_ASD_replication_cases-case7-0273-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 70605705
 70744571
  138867
 GRCh38
 Deletion
 No
  celestino-soper_11_ASD_discovery_cases-11076
 NA
 M
 ASD
 NA
 NA
 73718718
 73718791
  74
 GRCh38
 Deletion
 No
  egger_14_ASD_discovery_cases-caseA196
 N/A
 N/A
 ASD
 CNV: high stringency genic CNV call (2 or more algorithms), with no overlapping calls in 2,357 POPGEN and OHI controls, and <50% overlap in DGV.
 
 74228390
 74559284
  330895
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14196_3200
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 71939322
 71983599
  44278
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18120_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 73827653
 73978059
  150407
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001225
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 73403238
 73935284
  532047
 GRCh38
 Duplication
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004687
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 73647348
 73927680
  280333
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12308.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 72693691
 72695099
  1409
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case13910.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 73646608
 73651890
  5283
 GRCh38
 Deletion
 Yes
  levy_11_ASD_discovery_cases-11730.p1
 NA
 M
 ASD
 NA
 NA
 73628335
 73811089
  182755
 GRCh38
 Duplication
 No
  levy_11_ASD_discovery_cases-12100.p1
 NA
 M
 ASD
 NA
 NA
 72322855
 72334509
  11655
 GRCh38
 Deletion
 No
  poultney_13_ASD_discovery_cases-case04HI2779A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU0997302; NDAR ID NDAR_INVCJ416NVR)
 
 73899144
 73927364
  28221
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case60662-L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 74803827
 74814772
  10946
 Unknown
 Deletion
 No
  qiao_12_ASD_discovery_cases-case10-27A
 NA
 NA
 ASD and/or ID
 NA
 NA
 74833461
 74912058
  78597
 Unknown
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-297a2
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: no.
 Developmental delay: yes. Intellectual disability: N/A.
 72898074
 73009154
  111081
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11129.p1
 4.7
 F
 Autism
 NA
 Full-scale IQ, 81; non-verbal IQ, 79; verbal IQ 91
 75299853
 75318123
  18271
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11831.p1
 10.5
 M
 Autism
 NA
 Full-scale IQ, 110; non-verbal IQ, 109; verbal IQ, 110
 71812720
 71838128
  25409
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12106.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 112; non-verbal IQ, 110; verbal IQ, 113
 71812720
 71838128
  25409
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12158.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
 71590143
 71628785
  38643
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12286.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 71660308
 71719424
  59117
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12809.p1
 5.6
 M
 ASD
 NA
 Full-scale IQ, 86; non-verbal IQ, 88; verbal IQ, 88
 74394060
 74469444
  75385
 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
 71812720
 71849534
  36815
 GRCh38
 Duplication
 No
  shin_15_ASD/DD/ID_discovery_cases-case23
 3 yrs.
 M
 Developmental delay/intellectual disability
 Developmental delay, intellectual disability
 Intellectual disability
 71281982
 72034720
  752739
 GRCh38
 Duplication
 No
  yuen_17_ASD_discovery_cases-case1-0217-003
 N/A
 N/A
 ASD
 Case cohort: The Autism Simplex Collection . Clinical description: bilateral clinodactyly 5th digits, bilateral dysmorphic toes
 
 70625895
 70695895
  70001
 GRCh38
 Deletion
 Yes
  yuen_17_ASD_discovery_cases-case7-0273-003
 N/A
 N/A
 ASD
 Case cohort: ASD: Genomes to Outcome Study. Clinical description: ADHD
 
 70605706
 70744571
  138866
 GRCh38
 Deletion
 Yes

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-control12832.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  71443992
  71444955
  964
  GRCh38
  Deletion
  Yes
  poultney_13_ASD_discovery_controls-control04C30933A
  N/A
  M
  Control
  NIMH Control (NIMH ID 60269)
 
  75266161
  75290041
  23881
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  71590143
  71719424
  129282
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12223.s1
  10.9
  F
  Control (matched sibling)
  NA
  NA
  72431026
  72436831
  5806
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12463.s1
  12.3
  F
  Control (matched sibling)
  NA
  NA
  73709464
  73714229
  4766
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 asadollahi_14_NDD_discovery_cases-case68629
 MLPA
 
 Maternal
 Unknown
 Unknown
 SLCO2B1
 
 brandler_18_ASD_replication_cases-case7-0273-003
 No validation step reported
 
 Maternal
 
 
 SHANK2-AS2,SHANK2-AS1,SHANK2
 
 celestino-soper_11_ASD_discovery_cases-11076
 
 
 Unknown
 Simplex
 NA
 RAB6A
 
 egger_14_ASD_discovery_cases-caseA196
 
 
 Unknown
 
 Unknown
 HNRNPA1P40,MIR548AL,CYCSP27,LIPT2,P4HA3,PGM2L1,KCNE3,PPME1,P4HA3-AS1,POLD3
 
 engchuan_15_ASD_discovery_cases-case14196_3200
 
 
 Unknown
 
 
 RNF121
 
 engchuan_15_ASD_discovery_cases-case18120_302
 
 
 Unknown
 
 
 RN7SKP243,CCDC58P5,UCP2,COA4,DNAJB13,MRPL48,PAAF1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001225
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HMGN2P38,RN7SKP243,CCDC58P5,RAB6A,COA4,FAM168A,PLEKHB1,MRPL48,PAAF1
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004687
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 RN7SKP243,CCDC58P5,RAB6A,COA4,PLEKHB1,MRPL48,PAAF1
 
 krumm_15_ASD_discovery_cases-case12308.p1
 Illumina 1MDuo
 
 De novo
 Simplex
 Segregated
 ARAP1-AS1,ARAP1
 
 krumm_15_ASD_discovery_cases-case13910.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 PLEKHB1
 
 levy_11_ASD_discovery_cases-11730.p1
 
 
 Paternal
 Simplex
 Segregated
 RAB6A,PLEKHB1,MRPL48
 
 levy_11_ASD_discovery_cases-12100.p1
 
 
 De novo
 Simplex
 Segregated
 CLPB
 
 poultney_13_ASD_discovery_cases-case04HI2779A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 PAAF1
 
 prasad_12_ASD_discovery_cases-case60662-L
 
 
 Unknown
 Unknown
 Unknown
 KLHL35
 
 qiao_12_ASD_discovery_cases-case10-27A
 QMPSF
 
 Paternal
 Unknown
 Unknown
 GDPD5
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR02-297a2
 qPCR (CNV not detected)
 
 Biparental/Diploid copy number
 Unknown
 Unknown
 FCHSD2
 
 sanders_11_ASD_discovery_cases-11129.p1
 
 
 Paternal
 Simplex (trio)
 NA
 ARRB1
 
 sanders_11_ASD_discovery_cases-11831.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 ZNF705E,DEFB108B,ALG1L9P
 
 sanders_11_ASD_discovery_cases-12106.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 ZNF705E,DEFB108B,ALG1L9P
 
 sanders_11_ASD_discovery_cases-12158.p1
 
 
 Both parents
 Simplex (trio)
 NA
 OR7E87P,UNC93B6,OR7E4P,KRTAP5-11
 
 sanders_11_ASD_discovery_cases-12286.p1
 
 
 Unknown
 Simplex (trio)
 NA
 RPS3AP41,SNRPCP14,ENPP7P8
 
 sanders_11_ASD_discovery_cases-12809.p1
 
 
 Maternal
 Simplex (trio)
 NA
 MIR548AL,PGM2L1,KCNE3
 
 sanders_11_ASD_discovery_cases-13153.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 ZNF705E,DEFB108B,RNA5SP342,ALG1L9P
 
 shin_15_ASD/DD/ID_discovery_cases-case23
 
 
 Unknown
 
 Unknown
 MIR6754,KRTAP5-7,KRTAP5-8,KRTAP5-10,KRTAP5-14P,OR7E87P,UNC93B6,OR7E4P,RPS3AP41,SNRPCP14,ZNF705E,DEFB108B,RNA5SP342,DEFB131B,OR7E128P,OR7E126P,IL18BP,FLJ42102,NADSYN1,KRTAP5-9,KRTAP5-11,ENPP7P8,FAM86C1,ALG1L9P,DEFB130C,NUMA1,DHCR7,RNF121
 
 yuen_17_ASD_discovery_cases-case1-0217-003
 Illumina1M
 
 De novo
 Simplex
 Segregated
 SHANK2-AS2,SHANK2-AS1,SHANK2
 
 yuen_17_ASD_discovery_cases-case7-0273-003
 Affymetrix CytoScan HD
 
 Maternal
 Simplex
 Unknown
 SHANK2-AS2,SHANK2-AS1,SHANK2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_controls-control12832.s1
  Illumina 1MDuo
 
  Maternal
 
 
  DHCR7
 
poultney_13_ASD_discovery_controls-control04C30933A
 
 
  Unknown
 
 
  ARRB1
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Unknown
  Simplex (quad)
  NA
  OR7E87P,UNC93B6,OR7E4P,RPS3AP41,SNRPCP14,KRTAP5-11,ENPP7P8
 
sanders_11_ASD_discovery_controls-12223.s1
 
 
  Unknown
  Simplex (quad)
  NA
  CLPB
 
sanders_11_ASD_discovery_controls-12463.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RAB6A
 

No Animal Model Data Available
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