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20q11.23CNV Type: Deletion-Duplication


Largest CNV size: 31231 bp

Statistics Box:
Number of Reports: 7


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Excess of rare, inherited truncating mutations in autism.
N/A

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 78190
 N/A
 N/A
 3
 levy_11_ASD_discovery_cases
 Autistic probands from 887 families from the Simons Simplex Collection (SSC)
 858
 ASD
 
 87.06% Male
 31231
 0
 1
 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)
 5378
 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
 9441
 2
 1
 3
 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
 375143
 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
 23477
 23
 2
 25
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 17935
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 0
 0
 0
 0
 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)
 718597
 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)
 9441
 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.
 
 23477
 21
 1
 22
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 17935
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  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
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

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_cases-case11554.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 37141161
 37147909
  6749
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13782.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 35869437
 35947627
  78191
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13949.p1
 N/A
 N/A
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type:
 
 36255577
 36268948
  13372
 GRCh38
 N/A
 Yes
  levy_11_ASD_discovery_cases-12320.p1
 NA
 M
 ASD
 NA
 NA
 38410824
 38442059
  31236
 GRCh38
 Duplication
 No
  poultney_13_ASD_discovery_cases-case05HI3997A
 N/A
 M
 ASD
 ASD case from AGRE (AGRE ID AU1439303; NDAR ID NDAR_INVJL075AWY)
 
 36752786
 36758163
  5378
 GRCh38
 Duplication
 No
  prasad_12_ASD_discovery_cases-case149491L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 35064675
 35073353
  8679
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case63727
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 34772977
 34781538
  8562
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case79785
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 34477659
 34487099
  9441
 Unknown
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-099
 N/A
 N/A
 CBLH
 Diagnosis of cerebellar hypoplasia (CBLH).
 
 38392336
 38767477
  375142
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11004.p1
 15.8
 M
 ASD
 NA
 Full-scale IQ, 59; non-verbal IQ, 74; verbal IQ, 31
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11164.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 107; verbal IQ, 89
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11316.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 45; verbal IQ, 21
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11339.p1
 10
 F
 Autism
 NA
 Full-scale IQ, 72; non-verbal IQ, 62; verbal IQ, 93
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11399.p1
 11.9
 M
 ASD
 NA
 Full-scale IQ, 106; non-verbal IQ, 110; verbal IQ, 100
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11409.p1
 4.1
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 101; verbal IQ 90
 37676238
 37688018
  11781
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11473.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11476.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 99
 37676238
 37678564
  2327
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11483.p1
 9.9
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 80; verbal IQ, 89
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11485.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 75; verbal IQ, 63
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11512.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 33; non-verbal IQ, 43; verbal IQ, 22
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11575.p1
 11.8
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 105; verbal IQ, 100
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11712.p1
 5.5
 M
 ASD
 NA
 Full-scale IQ, 79; non-verbal IQ, 94; verbal IQ, 60
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11939.p1
 7.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 91; verbal IQ, 88
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12029.p1
 8.6
 M
 Autism
 NA
 Full-scale IQ, 103; non-verbal IQ, 108; verbal IQ, 94
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12052.p1
 7.4
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 100; verbal IQ, 64
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12057.p1
 12.1
 M
 Autism
 NA
 Full-scale IQ, 43; non-verbal IQ, 50; verbal IQ, 29
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12180.p1
 16.3
 M
 Autism
 NA
 Full-scale IQ, 88; non-verbal IQ, 92; verbal IQ, 86
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12286.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
 37011583
 37035060
  23478
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12320.p1
 8.5
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 107; verbal IQ, 100
 38416886
 38438846
  21961
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12368.p1
 10.2
 M
 Autism
 NA
 Full-scale IQ, 47; non-verbal IQ, 50; verbal IQ, 40
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 36415386
 36424412
  9027
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12851.p1
 4.7
 M
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 49; verbal IQ, 14
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12907.p1
 13.8
 M
 ASD
 NA
 Full-scale IQ, 114; non-verbal IQ, 116; verbal IQ, 108
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13035.p1
 4.8
 F
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 92; verbal IQ, 83
 38380824
 38384518
  3695
 GRCh38
 Deletion
 No
  yin_16_ASD_discovery_cases-case585
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 37072230
 37090164
  17935
 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
  poultney_13_ASD_discovery_controls-control05C42574A
  N/A
  M
  Control
  NIMH Control (NIMH ID 53459)
 
  37840100
  38558455
  718356
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11064.s1
  10
  F
  Control (matched sibling)
  NA
  NA
  38376987
  38384518
  7532
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11164.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11189.s1
  12.2
  F
  Control (matched sibling)
  NA
  NA
  37676238
  37678564
  2327
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11316.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11339.s1
  11.2
  M
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11483.s1
  12.7
  M
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11485.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  38376987
  38384518
  7532
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11512.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11575.s1
  15.1
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11712.s1
  8.6
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11839.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11888.s1
  9.6
  M
  Control (matched sibling)
  NA
  NA
  37011583
  37035060
  23478
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11977.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38390498
  9675
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12308.s1
  9.6
  M
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12329.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  38382626
  38384518
  1893
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12368.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12481.s1
  9
  M
  Control (matched sibling)
  NA
  NA
  38360442
  38360727
  286
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12552.s1
  4.2
  M
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12572.s1
  6.6
  F
  Control (matched sibling)
  NA
  NA
  36415386
  36424412
  9027
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13035.s1
  12.8
  F
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13324.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  38380824
  38384518
  3695
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 krumm_15_ASD_discovery_cases-case11554.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 MROH8
 
 krumm_15_ASD_discovery_cases-case13782.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 HIGD1AP16,RNU4-40P,RNU6-937P,PHF20
 
 krumm_15_ASD_discovery_cases-case13949.p1
 aCGH
 
 De novo
 Simplex
 Likely segregated
 AAR2
 
 levy_11_ASD_discovery_cases-12320.p1
 
 
 Paternal
 Simplex
 Segregated
 SNHG17,SNORA71B,SNORA71A,SNORA71C,SNORA71D
 
 poultney_13_ASD_discovery_cases-case05HI3997A
 
 
 Unknown
 Unknown (likely multiplex/AGRE)
 Unknown
 DSN1
 
 prasad_12_ASD_discovery_cases-case149491L
 
 
 Unknown
 Unknown
 Unknown
 RBL1
 
 prasad_12_ASD_discovery_cases-case63727
 
 
 Unknown
 Unknown
 Unknown
 NDRG3
 
 prasad_12_ASD_discovery_cases-case79785
 
 
 Unknown
 Unknown
 Unknown
 DLGAP4
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-099
 qPCR
 
 Maternal
 Unknown
 Unknown
 SNHG17,SNORA71B,SNORA71A,SNORA71C,SNORA71D,SNHG11,SNORA71E,SNORA60,MIR548O2,RPS3P2,SLC32A1,RN7SKP173,ADIG,ARHGAP40,ACTR5,RALGAPB
 
 sanders_11_ASD_discovery_cases-11004.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11164.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11316.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11339.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11399.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11409.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11473.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11476.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11483.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11485.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11512.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11575.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11712.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11939.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12029.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12052.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12057.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12180.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12286.p1
 
 
 Both parents
 Simplex (trio)
 NA
 RPS3AP3,RBL1
 
 sanders_11_ASD_discovery_cases-12320.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 SNHG17,SNORA71B,SNORA71A,SNORA71C,SNORA71D
 
 sanders_11_ASD_discovery_cases-12368.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 DLGAP4
 
 sanders_11_ASD_discovery_cases-12851.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12907.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13035.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 yin_16_ASD_discovery_cases-case585
 
 
 Unknown
 Unknown
 Unknown
 RBL1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
poultney_13_ASD_discovery_controls-control05C42574A
 
 
  Unknown
 
 
  RN7SKP185,RN7SL237P,SNHG17,SNORA71B,SNORA71A,SNORA71C,SNORA71D,SNHG11,SNORA71E,SNORA60,MIR548O2,RPS3P2,VSTM2L,RPRD1B,KIAA1755,BPI,LBP,TTI1,TGM2,RALGAPB,CTNNBL1
 
sanders_11_ASD_discovery_controls-11064.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LBP
 
sanders_11_ASD_discovery_controls-11164.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11189.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11316.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11339.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11483.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11485.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LBP
 
sanders_11_ASD_discovery_controls-11512.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11575.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11712.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11839.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11888.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RPS3AP3,RBL1
 
sanders_11_ASD_discovery_controls-11977.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12308.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12329.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12368.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12481.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LBP
 
sanders_11_ASD_discovery_controls-12552.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12572.s1
 
 
  Maternal
  Simplex (quad)
  NA
  DLGAP4
 
sanders_11_ASD_discovery_controls-13035.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13324.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
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