geno logo
     HELP     Sign In

Quick Links

TOOLS

Xq27.2CNV Type: Deletion-Duplication


Largest CNV size: 465948 bp

Statistics Box:
Number of Reports: 9


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
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion-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
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-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
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
NA
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 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
 465947
 8
 9
 17
 gai_11_ASD_discovery_cases
 Discovery case samples derived from AGRE set 4 (most recent patient recruitment)
 631
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 410821
 1
 0
 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
 
 
 410821
 5
 0
 5
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 291
 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
 340000
 2
 1
 3
 marshall_08_ASD_discovery_cases
 Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
 427
 ASD
 
 
 307125
 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
 
 
 465948
 4
 2
 6
 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
 265228
 1
 1
 2
 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
 65230
 2
 0
 2
 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
 459106
 1
 7
 8

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 670603
 10
 27
 37
 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
 marshall_08_ASD_discovery_controls_1
 German PopGen project and entries from Database of Genomic Variants
 500
 Controls
 
 
 0
 0
 0
 0
 marshall_08_ASD_discovery_controls_2
 Non-disease controls from Ontario population
 1152
 Controls
 
 
 0
 0
 0
 0
 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)
 265228
 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.
 
 290106
 3
 8
 11

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 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
 marshall_08_ASD_discovery_cases
  90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
 Array SNP, karotyping
  Affymetrix 500K
 dChip, CNAG, GEMCA
 
 qPCR, qmPCR
 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
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 None (not tested or failure to confirm by qPCR)
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  None
  marshall_08_ASD_discovery_controls_1
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  marshall_08_ASD_discovery_controls_2
  European
  Array SNP, karotyping
  Affymetrix 500K
  dChip, CNAG, GEMCA
 
 
  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
  engchuan_15_ASD_discovery_cases-case1231_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141245587
 141694933
  449347
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14074_1280
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141245587
 141691441
  445855
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14116_2080
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141605970
 141694933
  88964
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14161_2640
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141985036
 142024962
  39927
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case14338_4520
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141508039
 141783209
  275171
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14339_4530
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141245587
 141694933
  449347
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case18191_302
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141245587
 141694933
  449347
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3394_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141229805
 141562882
  333078
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case3447_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141508039
 141694933
  186895
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4363_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141605970
 141694933
  88964
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5074_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141229805
 141701775
  471971
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5084_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141985036
 142024962
  39927
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5512_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141562882
 141691441
  128560
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5512_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141242396
 141471727
  229332
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8048_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141250995
 141472701
  221707
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8415_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 142747033
 142937101
  190069
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case8437_202
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 141245587
 141694933
  449347
 GRCh38
 Duplication
 No
  gai_11_ASD_discovery_cases-AU1614302
 
 
 Autism
 
 
 140176173
 140586993
  410821
 Unknown
 Hemizygous Deletion
 No
  gai_11_ASD_replication_cases-AU008003
 
 
 Autism
 
 
 140176173
 140586993
  410821
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU041105
 
 
 Autism
 
 
 140176173
 140586993
  410821
 Unknown
 Deletion
 No
  gai_11_ASD_replication_cases-AU062603
 
 
 Autism
 
 
 140176173
 140586993
  410821
 Unknown
 Hemizygous Deletion
 No
  gai_11_ASD_replication_cases-AU062604
 
 
 Autism
 
 
 140176173
 140586993
  410821
 Unknown
 Hemizygous Deletion
 No
  gai_11_ASD_replication_cases-AU070008
 
 
 Autism
 
 
 140176173
 140382948
  206776
 Unknown
 Hemizygous Deletion
 No
  krumm_15_ASD_discovery_cases-case12775.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 141895268
 141895559
  292
 GRCh38
 Duplication
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown240
  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)
 
 141258960
 141469623
  210664
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown241
  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)
 
 141258960
 141605238
  346279
 GRCh38
 Deletion
 No
  maini_18_ASD/DD/ID_discovery_cases-case_unknown242
  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)
 
 141850548
 142112548
  262001
 GRCh38
 Duplication
 No
  marshall_08_ASD_discovery_cases-NA0016-000
 NA
 F
 ASD
 NA
 NA
 141787064
 142094189
  307126
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1206_5
 NA
 M
 ASD
 NA
 NA
 140172790
 140495711
  322922
 Unknown
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case1231_3
 NA
 M
 Autism
 Verbal, delayed suture closure, complex partial seizures
 Normal IQ
 141245587
 141694933
  449347
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5074_4
 NA
 M
 ASD
 NA
 NA
 141229805
 141701775
  471971
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5084_4
 NA
 M
 ASD
 NA
 NA
 141985036
 142024962
  39927
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5512_3
 NA
 F
 ASD
 NA
 NA
 141562882
 141691441
  128560
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case5512_3
 NA
 F
 ASD
 NA
 NA
 141242396
 141471727
  229332
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case129927
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
 
 141808847
 141818927
  10081
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case51524
 NA
 F
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 140749382
 141014609
  265228
 Unknown
 Duplication
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1600-0
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: no.
 Developmental delay: yes. Intellectual disability: unknown.
 141605970
 141671175
  65206
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-222
 N/A
 N/A
 PMG
 Diagnosis of polymicrogyria (PMG).
 
 141605970
 141671175
  65206
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11360.p1
 10.9
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 108; verbal IQ, 97
 141579924
 141690687
  110764
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11468.p1
 10.7
 M
 Aspergers
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 87
 141229805
 141694933
  465129
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11977.p1
 10.2
 M
 ASD
 NA
 Full-scale IQ, 74; non-verbal IQ, 74; verbal IQ, 80
 141245587
 141691441
  445855
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11999.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 141260298
 141472701
  212404
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12378.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 84; verbal IQ, 81
 141603220
 141691441
  88222
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12457.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 97; verbal IQ, 103
 141882304
 141895341
  13038
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 141245587
 141694933
  449347
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13072.p1
 15.5
 F
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
 141605970
 141691441
  85472
 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-control110036019115_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141691441
  445855
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-control110036020774_
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141605970
  142120246
  514277
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB244019_1007875351
  N/A
  N/A
  Control
  No previous psychiatric history
 
  142852290
  143522845
  670556
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB275079_1007852942
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141605970
  141694933
  88964
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB340331_1007844528
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141605970
  141671175
  65206
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB472351_1007842232
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141985036
  142024962
  39927
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB497980_1007852882
  N/A
  N/A
  Control
  No previous psychiatric history
 
  142024004
  142549238
  525235
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB527065_1007854192
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141229805
  141531186
  301382
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB537495_1007853968
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141250995
  141472701
  221707
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB581247_1007872544
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141250995
  141531186
  280192
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB592971_1007873531
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141242396
  141707446
  465051
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB618506_1007853744
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141471727
  226141
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB632671_1007846468
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141531186
  141985036
  453851
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB719092_1007853947
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141605970
  141671175
  65206
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB724913_1007872636
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141392810
  141531186
  138377
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB774671_0067942570
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141252712
  141472701
  219990
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB776821_1007846118
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141589120
  141763327
  174208
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB788977_1007873603
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141691441
  445855
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB799314_0057057099
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141691441
  445855
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB980109_1007875790
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141985036
  142024962
  39927
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900229_900229
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141472701
  227115
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900314_900314
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141676527
  430941
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900341_900341
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141603220
  141985036
  381817
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900368_900368
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141250995
  141472701
  221707
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900663_900663
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141603220
  141676527
  73308
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900929_900929
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141250995
  141472701
  221707
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900964_900964
  N/A
  N/A
  Control
  No previous psychiatric history
 
  142747033
  142937101
  190069
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901008_901008
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141472701
  227115
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901026_901026
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141516085
  270499
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901043_901043
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141579924
  334338
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141229805
  141562882
  333078
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141603220
  141694933
  91714
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901247_901247
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141655766
  141726251
  70486
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902544_902544
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141595163
  141694933
  99771
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141245587
  141562882
  317296
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
  N/A
  N/A
  Control
  No previous psychiatric history
 
  141985036
  142029663
  44628
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_902698_902698
  N/A
  N/A
  Control
  No previous psychiatric history
 
  142822870
  142922855
  99986
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11360.s1
  8.4
  F
  Control (matched sibling)
  NA
  NA
  141605970
  141671175
  65206
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11543.s1
  18.1
  F
  Control (matched sibling)
  NA
  NA
  141245587
  141472701
  227115
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11568.s1
  16.7
  F
  Control (matched sibling)
  NA
  NA
  141605970
  141700630
  94661
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11977.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  141245587
  141472701
  227115
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11977.s1
  13.3
  F
  Control (matched sibling)
  NA
  NA
  141589120
  141676527
  87408
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  141245587
  141472701
  227115
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11999.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  141603220
  141676527
  73308
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12462.s1
  20.8
  F
  Control (matched sibling)
  NA
  NA
  142012553
  142036216
  23664
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12573.s1
  11.7
  M
  Control (matched sibling)
  NA
  NA
  141522387
  141694933
  172547
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12729.s1
  13.5
  M
  Control (matched sibling)
  NA
  NA
  141250995
  141547167
  296173
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13072.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  141608987
  141691441
  82455
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case1231_3
 
 
 Unknown
 
 
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case14074_1280
 
 
 Unknown
 
 
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case14116_2080
 
 
 Unknown
 
 
 SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case14161_2640
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14338_4520
 
 
 Unknown
 
 
 SPANXA1,SPANXD,SPANXA2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case14339_4530
 
 
 Unknown
 
 
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case18191_302
 
 
 Unknown
 
 
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case3394_3
 
 
 Unknown
 
 
 SPANXC,RBMX2P2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case3447_3
 
 
 Unknown
 
 
 SPANXA1,SPANXA2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case4363_1
 
 
 Unknown
 
 
 SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case5074_4
 
 
 Unknown
 
 
 SPANXC,SPANXA1,SPANXD,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case5084_4
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5512_3
 
 
 Unknown
 
 
 SPANXA1,SPANXA2,SPANXA2-OT1
 
 engchuan_15_ASD_discovery_cases-case5512_3
 
 
 Unknown
 
 
 SPANXC,RBMX2P2
 
 engchuan_15_ASD_discovery_cases-case8048_202
 
 
 Unknown
 
 
 RBMX2P2
 
 engchuan_15_ASD_discovery_cases-case8415_201
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8437_202
 
 
 Unknown
 
 
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 gai_11_ASD_discovery_cases-AU1614302
 
 
 Inherited
 
 
 SPANXA2, SPANXA1
 
 gai_11_ASD_replication_cases-AU008003
 
 
 Inherited
 
 
 SPANXA2, SPANXA1
 
 gai_11_ASD_replication_cases-AU041105
 
 
 Inherited
 
 
 SPANXA2, SPANXA1
 
 gai_11_ASD_replication_cases-AU062603
 
 
 Inherited
 
 
 SPANXA2, SPANXA1
 
 gai_11_ASD_replication_cases-AU062604
 
 
 Inherited
 
 
 SPANXA2, SPANXA1
 
 gai_11_ASD_replication_cases-AU070008
 
 
 Inherited
 
 
 0 genes
 
 krumm_15_ASD_discovery_cases-case12775.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 MAGEC3
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown240
 
 
 Maternal
 Unknown
 Unknown
 RBMX2P2
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown241
 
 
 Maternal
 Unknown
 Unknown
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown242
 
 
 Paternal
 Unknown
 Unknown
 MAGEC1,MAGEC3
 
 marshall_08_ASD_discovery_cases-NA0016-000
 qPCR, qmPCR
 
 Unknown
 NA
 NA
 MAGEC1,MAGEC3
 
 pinto_10_ASD_discovery_cases-case1206_5
 Affy5.0
 
 maternal
 NA
 NA
 SPANXA1,SPANXC
 
 pinto_10_ASD_discovery_cases-case1231_3
 Illumina550
 
 maternal
 NA
 NA
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 pinto_10_ASD_discovery_cases-case5074_4
 Agilent1M
 
 maternal
 NA
 NA
 SPANXC,SPANXA1,SPANXD,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 pinto_10_ASD_discovery_cases-case5084_4
 Agilent1M
 
 maternal
 NA
 NA
 
 
 pinto_10_ASD_discovery_cases-case5512_3
 Agilent1M
 
 Unknown
 NA
 NA
 SPANXA1,SPANXA2,SPANXA2-OT1
 
 pinto_10_ASD_discovery_cases-case5512_3
 Agilent1M
 
 Unknown
 NA
 NA
 SPANXC,RBMX2P2
 
 prasad_12_ASD_discovery_cases-case129927
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case51524
 
 
 Unknown
 Unknown
 Unknown
 MAGEC1,MAGEC3
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1600-0
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 SPANXA2-OT1
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-222
 Not tested by qPCR
 
 Unknown
 Unknown
 Unknown
 SPANXA2-OT1
 
 sanders_11_ASD_discovery_cases-11360.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 SPANXA1,SPANXA2,SPANXA2-OT1
 
 sanders_11_ASD_discovery_cases-11468.p1
 
 
 Unknown
 Simplex (trio)
 NA
 SPANXC,SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 sanders_11_ASD_discovery_cases-11977.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 sanders_11_ASD_discovery_cases-11999.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 RBMX2P2
 
 sanders_11_ASD_discovery_cases-12378.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 SPANXA2-OT1
 
 sanders_11_ASD_discovery_cases-12457.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 MAGEC3
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
 sanders_11_ASD_discovery_cases-13072.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 SPANXA2-OT1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036019115_
 
 
  Unknown
 
 
  SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-control110036020774_
 
 
  Unknown
 
 
  SPANXD,MAGEC1,MAGEC3,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB244019_1007875351
 
 
  Unknown
 
 
  RN7SKP81,RN7SKP149,PGBD4P6,MTND1P33,MTND2P39,SPANXN3,SPANXN4
 
engchuan_15_ASD_discovery_controls-controlB275079_1007852942
 
 
  Unknown
 
 
  SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB340331_1007844528
 
 
  Unknown
 
 
  SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB472351_1007842232
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB497980_1007852882
 
 
  Unknown
 
 
  MAGEC2,RNA5SP516
 
engchuan_15_ASD_discovery_controls-controlB527065_1007854192
 
 
  Unknown
 
 
  SPANXC,RBMX2P2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB537495_1007853968
 
 
  Unknown
 
 
  RBMX2P2
 
engchuan_15_ASD_discovery_controls-controlB581247_1007872544
 
 
  Unknown
 
 
  RBMX2P2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB592971_1007873531
 
 
  Unknown
 
 
  SPANXC,SPANXA1,SPANXD,RBMX2P2,SPANXA2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB618506_1007853744
 
 
  Unknown
 
 
  RBMX2P2
 
engchuan_15_ASD_discovery_controls-controlB632671_1007846468
 
 
  Unknown
 
 
  SPANXA1,SPANXD,MAGEC1,SPANXA2,MAGEC3,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB719092_1007853947
 
 
  Unknown
 
 
  SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB724913_1007872636
 
 
  Unknown
 
 
  SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB774671_0067942570
 
 
  Unknown
 
 
  RBMX2P2
 
engchuan_15_ASD_discovery_controls-controlB776821_1007846118
 
 
  Unknown
 
 
  SPANXD,SPANXA2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB788977_1007873603
 
 
  Unknown
 
 
  SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB799314_0057057099
 
 
  Unknown
 
 
  SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlB980109_1007875790
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900229_900229
 
 
  Unknown
 
 
  RBMX2P2
 
engchuan_15_ASD_discovery_controls-controlHABC_900314_900314
 
 
  Unknown
 
 
  SPANXA1,RBMX2P2,SPANXA2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_900341_900341
 
 
  Unknown
 
 
  SPANXD,MAGEC1,MAGEC3,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_900368_900368
 
 
  Unknown
 
 
  RBMX2P2
 
engchuan_15_ASD_discovery_controls-controlHABC_900663_900663
 
 
  Unknown
 
 
  SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_900929_900929
 
 
  Unknown
 
 
  RBMX2P2
 
engchuan_15_ASD_discovery_controls-controlHABC_900964_900964
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_901008_901008
 
 
  Unknown
 
 
  RBMX2P2
 
engchuan_15_ASD_discovery_controls-controlHABC_901026_901026
 
 
  Unknown
 
 
  RBMX2P2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_901043_901043
 
 
  Unknown
 
 
  RBMX2P2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_901056_901056
 
 
  Unknown
 
 
  SPANXC,RBMX2P2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_901101_901101
 
 
  Unknown
 
 
  SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_901247_901247
 
 
  Unknown
 
 
  SPANXD
 
engchuan_15_ASD_discovery_controls-controlHABC_902544_902544
 
 
  Unknown
 
 
  SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_902626_902626
 
 
  Unknown
 
 
  RBMX2P2,SPANXA2-OT1
 
engchuan_15_ASD_discovery_controls-controlHABC_902676_902676
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_902698_902698
 
 
  Unknown
 
 
 
 
sanders_11_ASD_discovery_controls-11360.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SPANXA2-OT1
 
sanders_11_ASD_discovery_controls-11543.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBMX2P2
 
sanders_11_ASD_discovery_controls-11568.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SPANXD,SPANXA2-OT1
 
sanders_11_ASD_discovery_controls-11977.s1
 
 
  Maternal
  Simplex (quad)
  NA
  RBMX2P2
 
sanders_11_ASD_discovery_controls-11977.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SPANXA2,SPANXA2-OT1
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Paternal
  Simplex (quad)
  NA
  RBMX2P2
 
sanders_11_ASD_discovery_controls-11999.s1
 
 
  Paternal
  Simplex (quad)
  NA
  SPANXA2-OT1
 
sanders_11_ASD_discovery_controls-12462.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12573.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SPANXA1,SPANXA2,SPANXA2-OT1
 
sanders_11_ASD_discovery_controls-12729.s1
 
 
  Unknown
  Simplex (quad)
  NA
  RBMX2P2,SPANXA2-OT1
 
sanders_11_ASD_discovery_controls-13072.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SPANXA2-OT1
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.