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Xq21.32CNV Type: Deletion


Largest CNV size: 58539 bp

Statistics Box:
Number of Reports: 5



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
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
NA
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 549000
 1
 1
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 555980
 1
 3
 4
 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
 
 
 58539
 1
 0
 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
 112754
 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
 43509
 10
 0
 10

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
 340733
 1
 2
 3
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 112754
 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.
 
 181587
 19
 2
 21

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 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, 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
  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
  digregorio_17_DD/ID_discovery_cases-DECIPHER_299928
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 93122120
 93671220
  549101
 GRCh38
 Duplication
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300040
  NA NA
 N/A
 M
 Cognitive impairment and epilepsy/seizures
 Bilateral cryptorchidism, congenital bilateral hip dislocation, seizures (CNV locus reported as Xq21.32-q21.33 in the report)
 Cognitive impairment
 93671161
 94215237
  544077
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case13013_173
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93754027
 93863746
  109720
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14226_3600
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93302445
 93461201
  158757
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4161_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 92957167
 93513147
  555981
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case5335_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 93555823
 93614361
  58539
 GRCh38
 Deletion
 No
  pinto_10_ASD_discovery_cases-case5335_3
 NA
 M
 Autism
 Mental retardation
 MR (IQ Leiter = 36)
 93555823
 93614361
  58539
 GRCh38
 Deletion
 Yes
  prasad_12_ASD_discovery_cases-case59640L
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 92263575
 92376328
  112754
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11324.p1
 11.4
 F
 Autism
 NA
 Full-scale IQ, 30; non-verbal IQ, 34; verbal IQ, 21
 94148102
 94148900
  799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11567.p1
 9.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 34
 94183035
 94206440
  23406
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 94148102
 94148900
  799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12594.p1
 8.3
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 100; verbal IQ, 101
 94148102
 94148900
  799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12597.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 70; non-verbal IQ, 77; verbal IQ, 66
 94148102
 94148900
  799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12794.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 96; verbal IQ, 97
 94148102
 94148900
  799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12827.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
 93716211
 93759720
  43510
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12827.p1
 5.5
 F
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 76; verbal IQ, 78
 94148102
 94148900
  799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12858.p1
 4.2
 F
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 99; verbal IQ, 83
 94148102
 94148900
  799
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13018.p1
 12.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 82; verbal IQ, 75
 94142154
 94158623
  16470
 GRCh38
 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
  engchuan_15_ASD_discovery_controls-controlB557757_1007876032
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94045661
  94331174
  285514
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
  N/A
  N/A
  Control
  No previous psychiatric history
 
  94355251
  94695984
  340734
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_901216_901216
  N/A
  N/A
  Control
  No previous psychiatric history
 
  93713005
  93985274
  272270
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11017.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11023.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11324.s1
  13
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11446.s1
  11
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11463.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11480.s1
  13.8
  F
  Control (matched sibling)
  NA
  NA
  94065758
  94076440
  10683
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11505.s1
  9.9
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94167560
  19459
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11627.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  93716211
  93761485
  45275
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11794.s1
  4.3
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94167560
  19459
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11818.s1
  14.3
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11845.s1
  7.5
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12223.s1
  10.9
  F
  Control (matched sibling)
  NA
  NA
  93728494
  93769938
  41445
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12233.s1
  6.8
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12339.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  92938769
  93120356
  181588
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12540.s1
  4.5
  F
  Control (matched sibling)
  NA
  NA
  93728494
  93761485
  32992
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12555.s1
  18.9
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12597.s1
  5.3
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12638.s1
  17.8
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94192701
  44600
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12794.s1
  6.3
  M
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13042.s1
  4.2
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94148900
  799
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13233.s1
  10.5
  F
  Control (matched sibling)
  NA
  NA
  94148102
  94192701
  44600
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_299928
 
 
 Paternal
 
 
 ST13P18,RPL7P55,NAP1L3
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300040
 qPCR
 
 Maternal
 
 
 NAP1L3,RNU6-332P,FAM133A
 
 engchuan_15_ASD_discovery_cases-case13013_173
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case14226_3600
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case4161_1
 
 
 Unknown
 
 
 ST13P18
 
 engchuan_15_ASD_discovery_cases-case5335_3
 
 
 Unknown
 
 
 RPL7P55
 
 pinto_10_ASD_discovery_cases-case5335_3
 Agilent1M
 
 maternal
 Simplex
 NA
 RPL7P55
 
 prasad_12_ASD_discovery_cases-case59640L
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 sanders_11_ASD_discovery_cases-11324.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11567.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12594.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12597.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12794.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12827.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12827.p1
 
 
 Both parents
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12858.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13018.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB557757_1007876032
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900099_900099
 
 
  Unknown
 
 
  PAICSP7
 
engchuan_15_ASD_discovery_controls-controlHABC_901216_901216
 
 
  Unknown
 
 
 
 
sanders_11_ASD_discovery_controls-11017.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11023.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11324.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11446.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11463.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11480.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11505.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11627.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11794.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11818.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11845.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12223.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12233.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12339.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12540.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12555.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12597.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12638.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12794.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13042.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13233.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 

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