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2p24.1CNV Type: Deletion-Duplication


Largest CNV size: 1584200 bp

Statistics Box:
Number of Reports: 10


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
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
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.
Duplication
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
NA
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  NA NA
 Cases with 16p13.11 duplications whom had been referred to 11 French and 1 Belgian genetic centers for various developmental disorders
 45
 The most frequently observed clinical features in cases were speech delay (88%), learning disabilities/intellectual disability (86%), ASD (67%), and motor delay (49%).
 Range, 6 months-25 years
 48.89% Male
 203966
 0
 1
 1
 chaves_19_ASD/DD/ID_discovery_cases
  NA NA
 Patients from the south of Brazil with neurodevelopmental disorders
 420
 Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
 Range, 0-49 years (mean 9.5 9.73 years)
 61.90% Male
 830729
 0
 1
 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
 517136
 2
 2
 4
 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
 
 
 601545
 0
 2
 2
 gazzellone_14_ASD_discovery_cases
 ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
 104
 Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
 Mean age at enrollment, 4.31 1.80 yrs.
 87.5% Male
 31505
 1
 1
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 77958
 0
 2
 2
 leppa_16_ASD_discovery_cases
 Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
 1764
 Diagnosis according to ADOS and ADI-R
 N/A
 N/A
 600000
 0
 1
 1
 reinthaler_14_EP_discovery_cases
 Epilepsy patients recruited as part of a multi-center effort from Austria, Germany, Australia, and Canada; 98 patients from multiplex families (at least two affected siblings)
 281
 Cases diagnosed with rolandic epilepsy according to International Classification of Seizures and Epilepsies; 230 cases with rolandic epilepsy, 51 cases with atypical rolandic epilepsy.
 N/A
 58.72% Male
 1903000
 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
 54384
 8
 0
 8
 szatmari_07_ASD_discovery_cases
 ASD patients from 173 families with at least two affected individuals from AGP
 196
 Patients diagnosed with ASD based on ADI-R and ADOS
 
 
 1584200
 0
 2
 2

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
 532983
 0
 1
 1
 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
 reinthaler_14_EP_discovery_controls
 Unscreened population controls
 1512
 Control
 N/A
 49.93% Male
 1903000
 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.
 
 54384
 6
 0
 6

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases
  France, Belgium
 aCGH, solid phase hybridization
  Agilent 44K, Agilent 60K, Agilent 105K, Agilent 180K, Illumina HumanHap300, Illumina HumanCytoSNP-12
 
 
 None
 chaves_19_ASD/DD/ID_discovery_cases
  Brazil
 Array SNP
  Affymetrix CytoScan 750K, Affymetrix CytoScan HD
 
 Affymetrix ChAS
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 gazzellone_14_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix CytoScan HD
 ChAS, iPattern, Nexus, Partek
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 leppa_16_ASD_discovery_cases
  N/A
 Solid phase hybridization
  Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
 PennCNV, QuantiSNP, GNOSIS
 GenomeStudio, CNVision
 None
 reinthaler_14_EP_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
 PennCNV
 Illumina Genome Viewer
 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
 
 
 szatmari_07_ASD_discovery_cases
 
 Array SNP
  Affymetrix 10K (v2)
 HMM
 dChip
 Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors

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
  reinthaler_14_EP_discovery_controls
  German
  Solid phase hybridization
  Illumina HumanOmniExpress BeadChip
  PennCNV
  Illumina Genome Viewer
  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
  allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case17
  NA NA
 20 yrs.
 F
 ASD, developmental delay, and learning disabilities
 Birth/neonatal history: uneventful prenatal period. Developmental milestones: developmental delay, motor delay, speech delay. Behavioral/psychiatric evaluation: ASD. Family history: phenotypically normal mother.
 Learning disabilities
 19275523
 19479488
  203966
 GRCh38
 Duplication
 No
  chaves_19_ASD/DD/ID_discovery_cases-case1
  NA NA
 N/A
 F
 Intellectual disability
 Mild intellectual disability, overweight
 Mild intellectual disability
 23759888
 24590616
  830729
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14291_4120
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19187345
 19224227
  36883
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case3222_4
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 20898202
 21402202
  504001
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case4378_1
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 19641098
 19776253
  135156
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8723_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 22292479
 22382758
  90280
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU1048301
 
 
 Autism
 
 
 22179300
 22696954
  517655
 Unknown
 Duplication
 No
  gai_11_ASD_replication_cases-AU1048302
 
 
 Autism
 
 
 22095410
 22696954
  601545
 Unknown
 Duplication
 No
  gazzellone_14_ASD_discovery_cases-case562-3
 N/A
 F
 ASD
 ASD; no other clinical information provided
 N/A
 23471862
 23503367
  31506
 GRCh38
 Deletion
 No
  gazzellone_14_ASD_discovery_cases-case659-3
 N/A
 M
 ASD
 ASD; no other clinical information provided
 N/A
 21215922
 21239224
  23303
 GRCh38
 Duplication
 No
  krumm_15_ASD_discovery_cases-case13314.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 20618986
 20624894
  5909
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13855.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 19973562
 20051520
  77959
 GRCh38
 Duplication
 Yes
  leppa_16_ASD_discovery_cases-AU1048302
 N/A
 M
 ASD
 
 
 22061128
 22620128
  559001
 GRCh38
 Duplication
 No
  reinthaler_14_EP_discovery_cases-caseGGRE02
 N/A
 M
 Epilepsy
 Epilepsy phenotype: rolandic epilepsy.
 
 21460413
 23362915
  1902503
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12117.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 68; non-verbal IQ, 76; verbal IQ, 56
 21593874
 21602988
  9115
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12201.p1
 13.3
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 131; verbal IQ, 116
 23243387
 23253176
  9790
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12211.p1
 6.2
 F
 Autism
 NA
 Full-scale IQ, 62; non-verbal IQ, 57; verbal IQ, 82
 19081553
 19089198
  7646
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12266.p1
 5.7
 M
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 65; verbal IQ, 54
 23243995
 23253176
  9182
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12613.p1
 12.6
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 78; verbal IQ, 79
 21191270
 21206326
  15057
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12661.p1
 8.4
 F
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 59; verbal IQ, 33
 21636604
 21663311
  26708
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12837.p1
 4.2
 M
 Autism
 NA
 Full-scale IQ, 89; non-verbal IQ, 92; verbal IQ, 89
 21967116
 22021500
  54385
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13183.p1
 5.8
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 69; verbal IQ, 56
 21598518
 21604063
  5546
 GRCh38
 Deletion
 No
  szatmari_07_ASD_discovery_cases-NAAR032-E1-3222.002
 NA
 
 ASD
 NA
 NA
 21114976
 21375776
  260801
 GRCh38
 Duplication
 Yes
  szatmari_07_ASD_discovery_cases-NAAR032-G1-3222.004
 NA
 
 ASD
 NA
 NA
 21114976
 22699176
  1584201
 GRCh38
 Duplication
 Yes

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-controlB253250_1007841374
  N/A
  N/A
  Control
  No previous psychiatric history
 
  23183625
  23716610
  532986
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  21598518
  21642332
  43815
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12201.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  23243995
  23253176
  9182
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12211.s1
  11.2
  F
  Control (matched sibling)
  NA
  NA
  19081553
  19089198
  7646
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12523.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  19187345
  19214748
  27404
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12723.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  21593874
  21600126
  6253
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12837.s1
  6.5
  F
  Control (matched sibling)
  NA
  NA
  21967116
  22021500
  54385
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 allach_el_khattabi_18_ASD/DD/ID_discovery_cases-case17
 
 
 Unknown
 
 Unknown
 MIR4757,OSR1,LINC01808,LINC01376
 
 chaves_19_ASD/DD/ID_discovery_cases-case1
 
 
 Unknown
 
 
 PGAM1P6,SDHCP3,RN7SL610P,RNU6-370P,HMGN2P20,RPL36AP13,RNA5SP88,MFSD2B,WDCP,FKBP1B,SF3B6,TP53I3,FAM228A,ATAD2B,UBXN2A,ITSN2,NCOA1,FAM228B,PFN4
 
 engchuan_15_ASD_discovery_cases-case14291_4120
 
 
 Unknown
 
 
 LINC01376
 
 engchuan_15_ASD_discovery_cases-case3222_4
 
 
 Unknown
 
 
 NUTF2P8,APOB,TDRD15
 
 engchuan_15_ASD_discovery_cases-case4378_1
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8723_201
 
 
 Unknown
 
 
 RNA5SP87
 
 gai_11_ASD_replication_cases-AU1048301
 
 
 Inherited
 
 
 0 genes
 
 gai_11_ASD_replication_cases-AU1048302
 
 
 Inherited
 
 
 0 genes
 
 gazzellone_14_ASD_discovery_cases-case562-3
 
 
 Unknown
 Unknown
 Unknown
 KLHL29
 
 gazzellone_14_ASD_discovery_cases-case659-3
 
 
 Unknown
 Unknown
 Unknown
 
 
 krumm_15_ASD_discovery_cases-case13314.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 HS1BP3
 
 krumm_15_ASD_discovery_cases-case13855.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 MATN3,LAPTM4A,WDR35
 
 leppa_16_ASD_discovery_cases-AU1048302
 
 
 Maternal
 Unknown
 Unknown
 RNA5SP87,LINC01884
 
 reinthaler_14_EP_discovery_cases-caseGGRE02
 
 
 Unknown
 Unknown
 Unknown
 RN7SL117P,RNA5SP87,LINC01884,RN7SKP27,LINC01822
 
 sanders_11_ASD_discovery_cases-12117.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12201.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12211.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 LINC01376
 
 sanders_11_ASD_discovery_cases-12266.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-12613.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12661.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12837.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13183.p1
 
 
 Unknown
 Simplex (quad-proband matched)
 Not segregated
 
 
 szatmari_07_ASD_discovery_cases-NAAR032-E1-3222.002
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 NUTF2P8,TDRD15
 
 szatmari_07_ASD_discovery_cases-NAAR032-G1-3222.004
 Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
 
 Unknown
 NA
 NA
 NUTF2P8,RN7SL117P,RNA5SP87,LINC01884,TDRD15,LINC01822
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB253250_1007841374
 
 
  Unknown
 
 
  KLHL29
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12201.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12211.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01376
 
sanders_11_ASD_discovery_controls-12523.s1
 
 
  Paternal
  Simplex (quad)
  NA
  LINC01376
 
sanders_11_ASD_discovery_controls-12723.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12837.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 

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