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15q24.3CNV Type: Deletion-Duplication


Largest CNV size: 194479 bp

Statistics Box:
Number of Reports: 4



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         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
Excess of rare, inherited truncating mutations in autism.
Deletion
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_discovery_cases
 Affected individuals from the Relating Genes with Adolescent and Child Health (REACH) cohort (362 cases from 311 families; 54 multiplex, 243 simplex) and the Simons Simplex 1 (SSC1) cohort (518 cases from simplex quad families)
 880
 REACH cohort: 285 cases diagnosed with ASD, 43 cases diagnosed with PDD-NOS, 10 cases diagnosed with ADHD, and 24 cases presenting with speech delay, epilepsy, anxiety, or other related developmental disorders that were classified as cases for bioinformatics analyses; Simons Simplex Collection 1 (SSC1) cohort: all 518 cases were diagnosed with ASD
 N/A
 N/A
 338
 1
 0
 1
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 122546
 1
 0
 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
 
 
 194479
 1
 0
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 45866
 1
 10
 11

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
 132434
 2
 0
 2
 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
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 22990
 2
 12
 14

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_discovery_cases
  N/A
 WGS
  Illumina HiSeq X10 or HiSeq 2500
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 PCR, array SNP
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 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)
 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
  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
  brandler_18_ASD_discovery_cases-caseMT_6.3
 N/A
 M
 ASD
 Case from REACH cohort
 
 77418213
 77418551
  339
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11391.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 76948409
 77070954
  122546
 GRCh38
 Deletion
 Yes
  pinto_10_ASD_discovery_cases-case6101_4
 NA
 M
 Autism
 Language delay, arNculaNon defect, normal physical exam
 Moderate MR
 74735339
 74929817
  194479
 Unknown
 Deletion
 Yes
  sanders_11_ASD_discovery_cases-11494.p1
 17.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 107; verbal IQ, 109
 77266344
 77279629
  13286
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11644.p1
 17
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 106; verbal IQ, 112
 77266344
 77279629
  13286
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11989.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 94; verbal IQ, 83
 77269275
 77279629
  10355
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11990.p1
 11.4
 M
 Autism
 NA
 Full-scale IQ, 79; non-verbal IQ, 81; verbal IQ, 78
 77791756
 77837622
  45867
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12158.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 81; verbal IQ, 100
 77266344
 77279629
  13286
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12321.p1
 11.2
 M
 Autism
 NA
 Full-scale IQ, 96; non-verbal IQ, 108; verbal IQ, 76
 76714818
 76719781
  4964
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12757.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 62; verbal IQ, 55
 77266344
 77279629
  13286
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12790.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 31; non-verbal IQ, 44; verbal IQ, 18
 77266344
 77279629
  13286
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12871.p1
 16.5
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 98; verbal IQ, 59
 77266344
 77279629
  13286
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12997.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 97; non-verbal IQ, 94; verbal IQ, 103
 77266344
 77279629
  13286
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13175.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 52
 77266344
 77279629
  13286
 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-controlB616228_1007853931
  N/A
  N/A
  Control
  No previous psychiatric history
 
  77532807
  77604855
  72049
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB712038_0067942594
  N/A
  N/A
  Control
  No previous psychiatric history
 
  77202179
  77334613
  132435
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11106.s1
  7.2
  M
  Control (matched sibling)
  NA
  NA
  77256639
  77279629
  22991
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11439.s1
  4.8
  M
  Control (matched sibling)
  NA
  NA
  77266344
  77279629
  13286
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11673.s1
  7.9
  M
  Control (matched sibling)
  NA
  NA
  76714818
  76719781
  4964
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11685.s1
  7.8
  M
  Control (matched sibling)
  NA
  NA
  77256639
  77279629
  22991
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11691.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  77256639
  77279629
  22991
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11928.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  77266344
  77279629
  13286
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11959.s1
  9.7
  F
  Control (matched sibling)
  NA
  NA
  77269275
  77279629
  10355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11989.s1
  8.1
  F
  Control (matched sibling)
  NA
  NA
  77269275
  77279629
  10355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  77269275
  77279629
  10355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  76585361
  76591786
  6426
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12060.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  77269275
  77279629
  10355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12321.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  76714818
  76719781
  4964
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12867.s1
  18.8
  M
  Control (matched sibling)
  NA
  NA
  77269275
  77279629
  10355
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12997.s1
  5.7
  F
  Control (matched sibling)
  NA
  NA
  77266344
  77279629
  13286
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_discovery_cases-caseMT_6.3
 PCR or SNP data validation
 
 Paternal
 
 
 PEAK1
 
 krumm_15_ASD_discovery_cases-case11391.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 RN7SL278P,KRT8P23,PSTPIP1,RCN2,TSPAN3
 
 pinto_10_ASD_discovery_cases-case6101_4
 qPCR
 
 De novo
 Multiplex (sibling with autism)
 Not segregated
 SCAPER exonic
 
 sanders_11_ASD_discovery_cases-11494.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PEAK1
 
 sanders_11_ASD_discovery_cases-11644.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PEAK1
 
 sanders_11_ASD_discovery_cases-11989.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PEAK1
 
 sanders_11_ASD_discovery_cases-11990.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Segregated
 LINGO1
 
 sanders_11_ASD_discovery_cases-12158.p1
 
 
 Both parents
 Simplex (trio)
 NA
 PEAK1
 
 sanders_11_ASD_discovery_cases-12321.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 SCAPER
 
 sanders_11_ASD_discovery_cases-12757.p1
 
 
 Both parents
 Simplex (trio)
 NA
 PEAK1
 
 sanders_11_ASD_discovery_cases-12790.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 PEAK1
 
 sanders_11_ASD_discovery_cases-12871.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PEAK1
 
 sanders_11_ASD_discovery_cases-12997.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PEAK1
 
 sanders_11_ASD_discovery_cases-13175.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 PEAK1
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB616228_1007853931
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB712038_0067942594
 
 
  Unknown
 
 
  PEAK1
 
sanders_11_ASD_discovery_controls-11106.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-11439.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-11673.s1
 
 
  Both parents
  Simplex (quad)
  NA
  SCAPER
 
sanders_11_ASD_discovery_controls-11685.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-11691.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-11928.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-11959.s1
 
 
  Maternal
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-11989.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Paternal
  Simplex (quad)
  NA
  MIR3713,SCAPER
 
sanders_11_ASD_discovery_controls-12060.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-12321.s1
 
 
  Maternal
  Simplex (quad)
  NA
  SCAPER
 
sanders_11_ASD_discovery_controls-12867.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 
sanders_11_ASD_discovery_controls-12997.s1
 
 
  Both parents
  Simplex (quad)
  NA
  PEAK1
 

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