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13q14.2CNV Type: Deletion-Duplication


Largest CNV size: 521000 bp

Statistics Box:
Number of Reports: 12



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Duplication
Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.
Duplication
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Duplication
Excess of rare, inherited truncating mutations in autism.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Novel copy number variants in children with autism and additional developmental anomalies.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
Transmission disequilibrium of small CNVs in simplex autism.
Deletion
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 szatmari_07_ASD_discovery_cases
 Autism Genome Project Consortium (AGP): ASD patients from 173 families with at least two affected individuals.
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 521000
 0
 2
 2
 christian_08_ASD_discovery_cases
 Subset of unrelated AGRE subjects (362 from multiplex families, 35 from simplex families)
 397
 ASD
 
 58.4% Male
 393000
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 457963
 0
 1
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 40624
 1
 0
 1
 davis_09_ASD_discovery_cases
 Autistic cases from Autism Genetic Research Exchange (AGRE)
 36
 ASD: diagnosis confirmed through ADI and in some cases ADOS-G. 17 cases with syndromic autism (autism and less than common craniofacial dysmorphology, limb or digit abnormality, or ocular abnormality), 19 cases selected at random with autism and no associated syndromic features
 NA
 NA
 308489
 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
 140841
 2
 2
 4
 lesca_12_EP_discovery_cases
 Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
 61
 Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
 Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
 61% Male
 33000
 0
 1
 1
 krumm_13_ASD_discovery_cases
 Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 81.265% Male
 1546
 1
 0
 1
 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)
 59542
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 143635
 0
 1
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 257638
 0
 4
 4
 pfundt_16_NDD_discovery_cases
 Subset of a cohort of 2,603 patients affected by genetic disorders for which exome seqeuncing was performed in a diagnostic setting
 1215
 Neurodevelopmental disorders
 N/A
 N/A
 1081004
 1
 0
 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
 
 
 393000
 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.
 
 140841
 1
 2
 3
 krumm_13_ASD_discovery_controls
 Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
 411
 Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
 N/A
 46.47% Male
 10627
 1
 1
 2
 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)
 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
 808410
 0
 2
 2
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 137793
 0
 2
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affy 10K v2 array
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
 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
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH (targeted, n=881; whole-genome, n=482) or whole-genome oligo-aCGH (n=98)
 
 
 FISH
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3
 None
 davis_09_ASD_discovery_cases
  NA
 Array SNP
  Affymetrix 250K Nsp or Syt microarray
 HMM
 CNAG v2
 None
 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 (n=334) or Illumina 1M v3 (n=840)
 PennCNV, QuantiSNP, & GNOSIS
 
 
 lesca_12_EP_discovery_cases
  France
 aCGH
  Agilent SurePrint G3 Human CGH Microarray 4x180K
 ADM-2
 Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
 None
 krumm_13_ASD_discovery_cases
  N/A
 WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
 DNACopy, CGHCall
 CoNIFER
 None
 poultney_13_ASD_discovery_cases
  European
 WES
  Agilent SureSelect Human All Exon v.2
 XHMM
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 pfundt_16_NDD_discovery_cases
  N/A
 WES
  Solid5500xl or IlluminaHiSeq2000
 
 CoNIFER
 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
 
 
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, & GNOSIS
 
 
  krumm_13_ASD_discovery_controls
  N/A
  WES
  Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
  DNACopy, CGHCall
  CoNIFER
  None
  poultney_13_ASD_discovery_controls
  European
  WES
  Agilent SureSelect Human All Exon v.2
  XHMM
 
 
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  szatmari_07_ASD_discovery_cases-NAAR054-F3-HI0298
 NA
 
 ASD
 NA
 NA
 47048100
 47569100
  521000
 NCBI Build35
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR054-F4-HI0299
 NA
 
 ASD
 NA
 NA
 47048100
 47569100
  521000
 NCBI Build35
 Duplication
 Yes
  christian_08_ASD_discovery_cases-AU038304
 NA
 M
 ASD
 NA
 NA
 46981038
 47373965
  393000
 UCSC Build36
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case11092
 NA
 NA
 ASD
 NA
 NA
 46386690
 46844653
  457963
 
 Duplication
 Yes
  gai_11_ASD_replication_cases-AU016403
 
 
 Autism
 
 
 47143354
 47183977
  40624
 
 Deletion
 No
  davis_09_ASD_discovery_cases-AU038303
 NA
 NA
 Non-syndromic ASD
 Diagnosis: Autism/spectrum on ADOS. Non-syndromic autism (no craniofacial dysmorphology, limb or digit malformation, or ocular abnormality).
 
 47021448
 47329937
  308489
 
 Duplication
 No
  sanders_11_ASD_discovery_cases-12289.p1
 12
 M
 ASD
 NA
 Full-scale IQ, 101; non-verbal IQ, 109; verbal IQ, 86
 47357902
 47391055
  33153
 hg18
 Duplication
 No
  sanders_11_ASD_discovery_cases-12363.p1
 14
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
 46904266
 46911242
  6976
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-12469.p1
 10
 M
 Aspergers
 NA
 Full-scale IQ, 125; non-verbal IQ, 105; verbal IQ, 151
 46232646
 46244300
  11654
 hg18
 Deletion
 No
  sanders_11_ASD_discovery_cases-13076.p1
 6
 M
 ASD
 NA
 Full-scale IQ, 89; non-verbal IQ, 85; verbal IQ, 102
 48695561
 48836402
  140841
 hg18
 Duplication
 No
  lesca_12_EP_discovery_cases-caseDY42
 NA
 F
 Epilepsy
 Phenotype: LKS-woESES. Seizure Characteristics: GTCS, PS. Autistic features: No. ADHD features: Yes. Other features: None.
 Initial cognitive development: Delayed. Cognitive regression: Yes. Verbal IQ 46, performance IQ 58 (at 11.25 years of age).
 48001345
 48034189
  33000
 UCSC Genome Browser build37
 Duplication
 No
  krumm_13_ASD_discovery_cases-case13808.p1
 N/A
 M
 ASD
 ASD proband from SSC quad family 13808. SRS score of 79.
 Full-scale IQ (FSIQ) score of 40.
 49084764
 49086310
  1546
 hg19
 Deletion
 No (not tested)
  poultney_13_ASD_discovery_cases-case05HI4308A
 N/A
 F
 ASD
 ASD case from AGRE (AGRE ID AU1220301; NDAR ID NDAR_INVUY718AWP)
 
 49030338
 49089879
  59542
 hg19
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case6254_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 46654031
 46797666
  143635
 hg18
 Duplication
 No
  krumm_15_ASD_discovery_cases-case11083.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 50125461
 50141415
  15954
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13076.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 49796175
 49933968
  137793
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13400.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 50041999
 50299637
  257638
 hg19
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13577.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 50134053
 50141417
  7364
 hg19
 Duplication
 Yes
  pfundt_16_NDD_discovery_cases-case18
 N/A
 N/A
 NDD
 Disease cohort: neurodevelopmental disorder. Description: SULA2 deletion
 
 47466524
 48547528
  1081004
 Not reported (likely GRCh37/hg19)
 Deletion
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  sanders_11_ASD_discovery_controls-12091.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  46904266
  46911242
  6976
  hg18
  Deletion
  No
  sanders_11_ASD_discovery_controls-12289.s1
  16
  M
  Control (matched sibling)
  NA
  NA
  47360704
  47391055
  30351
  hg18
  Duplication
  No
  sanders_11_ASD_discovery_controls-13076.s1
  19
  F
  Control (matched sibling)
  NA
  NA
  48695561
  48836402
  140841
  hg18
  Duplication
  No
  krumm_13_ASD_discovery_controls-control11298.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 11298. SRS score of 37.
 
  50123593
  50134220
  10627
  hg19
  Duplication
  No (not tested)
  krumm_13_ASD_discovery_controls-control13808.s1
  N/A
  M
  Control
  Unaffected sibling from SSC quad family 13808. SRS score of 44.
 
  49084764
  49086310
  1546
  hg19
  Deletion
  No (not tested)
  engchuan_15_ASD_discovery_controls-controlHABC_900387_900387
  N/A
  N/A
  Control
  No previous psychiatric history
 
  48455806
  48540141
  84335
  hg18
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900264_900264
  N/A
  N/A
  Control
  No previous psychiatric history
 
  46266852
  47075262
  808410
  hg18
  Duplication
  No
  krumm_15_ASD_discovery_controls-control13076.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  49796175
  49933968
  137793
  hg19
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13577.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  50134053
  50141417
  7364
  hg19
  Duplication
  Yes

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 szatmari_07_ASD_discovery_cases-NAAR054-F3-HI0298
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 SUCLA2,NUDT15,MED4
 
 szatmari_07_ASD_discovery_cases-NAAR054-F4-HI0299
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 SUCLA2,NUDT15,MED4
 
 christian_08_ASD_discovery_cases-AU038304
 FISH, microsatellite
 
 inherited
 Multiplex
 NA
 0 genes
 
 rosenfeld_10_ASD_discovery_cases-case11092
 FISH
 
 Maternal
 Unknown
 Unknown
 0 genes
 
 gai_11_ASD_replication_cases-AU016403
 
 
 Inherited
 
 
 0 genes
 
 davis_09_ASD_discovery_cases-AU038303
 
 
 Unknown
 Multiplex
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-12289.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12363.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 0 genes
 
 sanders_11_ASD_discovery_cases-12469.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 ESD
 
 sanders_11_ASD_discovery_cases-13076.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 CAB39L, CDADC1
 
 lesca_12_EP_discovery_cases-caseDY42
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 krumm_13_ASD_discovery_cases-case13808.p1
 
 
 Paternal
 Simplex
 Not segregated
 RCBTB2
 
 poultney_13_ASD_discovery_cases-case05HI4308A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 RB1,RCBTB2
 
 engchuan_15_ASD_discovery_cases-case6254_3
 
 
 Unknown
 
 
 0 genes
 
 krumm_15_ASD_discovery_cases-case11083.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RCBTB1,Intron (7/12),Exon (7/13),Intron (6/12),Exon (6/13),Intron (5/12),Exon (5/13),Intron (4/12),Exon (4/13),Intron (3/12)
 
 krumm_15_ASD_discovery_cases-case13076.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 MLNR,CDADC1,CAB39L,Exon (1/10),Intron (1/9),Intron (2/9),Intron (3/9),Exon (4/10),Intron (4/9),Exon (5/10),Intron (5/9),Intron (6/9),Exon (7/10),Intron (7/9),Exon (8/10),Intron (8/9),Exon (9/10),Intron (9/9),Exon (10/10),Exon (9/9),Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Intron (5/8),Exon (5/9),Intron (4/8),Exon (12/12),Intron (11/11),Exon (11/12),Intron (10/11),Exon (10/12),Intron (9/11),Intron (8/11),Exon (8/12),Intron (7/11),Exon (6/10),Exon (11/11),Intron (10/10),Exon (10/11),Intron (9/10),Exon (9/11),Intron (8/10),Intron (7/10),Exon (7/11),Intron (6/10)
 
 krumm_15_ASD_discovery_cases-case13400.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 SETDB2,PHF11,RCBTB1,ARL11,EBPL,KPNA3,Intron (6/14),Exon (7/15),Intron (7/14),Intron (8/14),Intron (9/14),Exon (10/15),Exon (11/15),Intron (11/14),Intron (12/14),Exon (13/15),Intron (13/14),Intron (14/14),Exon (15/15),Intron (4/12),Exon (5/13),Intron (5/12),Intron (6/12),Intron (7/12),Exon (8/13),Exon (9/13),Intron (9/12),Intron (10/12),Exon (11/13),Intron (11/12),Intron (12/12),Exon (13/13),Exon (1/10),Intron (1/9),Exon (2/10),Intron (2/9),Exon (3/10),Intron (3/9),Intron (4/9),Intron (5/9),Intron (6/9),Intron (7/9),Intron (8/9),Intron (9/9),Exon (10/10),Exon (1/11),Exon (2/11),Intron (2/10),Exon (3/11),Intron (3/10),Exon (4/11),Intron (4/10),Intron (5/10),Intron (6/10),Intron (7/10),Intron (8/10),Intron (9/10),Intron (10/10),Exon (11/11),Exon (10/13),Intron (8/12),Intron (3/12),Intron (2/12),Intron (1/12),Exon (1/2),Intron (1/1),Exon (2/2),Exon (5/5),Intron (4/4),Intron (3/4),Intron (2/4),Intron (1/4),Exon (1/5),Exon (4/4),Intron (3/3),Intron (2/3),Intron (1/3),Exon (1/4),Exon (17/17),Intron (16/16),Intron (15/16),Exon (15/17),Intron (12/16),Intron (11/16),Exon (11/17),Intron (10/16),Intron (9/16)
 
 krumm_15_ASD_discovery_cases-case13577.p1
 1M-Duov3
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 RCBTB1,Exon (5/13),Intron (4/12),Exon (4/13),Intron (3/12),Exon (3/13)
 
 pfundt_16_NDD_discovery_cases-case18
 
 
 
 
 
 HTR2A SUCLA2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-12091.s1
 
 
  Unknown
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-12289.s1
 
 
  Maternal
  Simplex (quad)
  NA
  0 genes
 
sanders_11_ASD_discovery_controls-13076.s1
 
 
  Paternal
  Simplex (quad)
  NA
  CAB39L, CDADC1
 
krumm_13_ASD_discovery_controls-control11298.s1
 
 
  Maternal
  Simplex
 
  RCBTB1
 
krumm_13_ASD_discovery_controls-control13808.s1
 
 
  Paternal
  Simplex
 
  RCBTB2
 
engchuan_15_ASD_discovery_controls-controlHABC_900387_900387
 
 
  Unknown
 
 
  FNDC3A
 
engchuan_15_ASD_discovery_controls-controlHABC_900264_900264
 
 
  Unknown
 
 
  ESD;HTR2A
 
krumm_15_ASD_discovery_controls-control13076.s1
  Illumina 1MDuo
 
  Paternal
 
 
  MLNR,CDADC1,CAB39L,Exon (1/10),Intron (1/9),Intron (2/9),Intron (3/9),Exon (4/10),Intron (4/9),Exon (5/10),Intron (5/9),Intron (6/9),Exon (7/10),Intron (7/9),Exon (8/10),Intron (8/9),Exon (9/10),Intron (9/9),Exon (10/10),Exon (9/9),Intron (8/8),Exon (8/9),Intron (7/8),Exon (7/9),Intron (6/8),Intron (5/8),Exon (5/9),Intron (4/8),Exon (12/12),Intron (11/11),Exon (11/12),Intron (10/11),Exon (10/12),Intron (9/11),Intron (8/11),Exon (8/12),Intron (7/11),Exon (6/10),Exon (11/11),Intron (10/10),Exon (10/11),Intron (9/10),Exon (9/11),Intron (8/10),Intron (7/10),Exon (7/11),Intron (6/10)
 
krumm_15_ASD_discovery_controls-control13577.s1
  1M-Duov3
 
  Maternal
 
 
  RCBTB1,Exon (5/13),Intron (4/12),Exon (4/13),Intron (3/12),Exon (3/13)
 

No Animal Model Data Available
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