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3q26.32-q26.33CNV Type: Deletion-Duplication


Largest CNV size: 264446 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
Social Responsiveness Scale-aided analysis of the clinical impact of copy number variations in autism.
Deletion
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.
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.
Duplication
Global increases in both common and rare copy number load associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_13b_ASD_discovery_cases
 Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
 243
 Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
 N/A
 N/A
 402811
 9
 0
 9
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 183297
 0
 1
 1
 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
 297320
 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
 264446
 0
 1
 1
 van_daalen_11_ASD_discovery_cases
 ASD probands selected from initial cohort of 210 preschoolers based on clinical characteristic scores. 21 probands from multiplex families, 29 probands from simplex families. Social Responsiveness Scale (SRS) administered to probands, parents, and available siblings.
 50
 ASD (DSM-IV-TR, ADOS-G, and ADI-R)
 
 
 245380
 1
 0
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 girirajan_13b_ASD_discovery_controls
 Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
 223
 Control
 N/A
 N/A
 369621
 4
 0
 4
 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.
 
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 girirajan_13b_ASD_discovery_cases
  133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
 aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
 DNA Copy Number v1.6
 
 None
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 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
 
 
 van_daalen_11_ASD_discovery_cases
  Netherlands
 Solid phase hybridization
  Illumina HumanHap300 BeadChip
 
 Beadstudio V2.3.41
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  girirajan_13b_ASD_discovery_controls
  116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
  aCGH
  Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
  DNA Copy Number v1.6
 
 
  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
  girirajan_13b_ASD_discovery_cases-10007107879
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 179260598
 179562867
  302270
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-13107107988
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 179260598
 179562867
  302270
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21009111337
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 179160056
 179562867
  402812
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-21908109957
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 179160056
 179562867
  402812
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-2408108893
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 179260598
 179562867
  302270
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-57804101558
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 179226820
 179562867
  336048
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-63004102748
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 179226820
 179562867
  336048
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-909110667
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Caucasian
 N/A
 179193246
 179496014
  302769
 GRCh38
 Deletion
 No
  girirajan_13b_ASD_discovery_cases-9505103679
 N/A
 N/A
 Autism
 Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Hispanic
 N/A
 179260598
 179562867
  302270
 GRCh38
 Deletion
 No
  krumm_15_ASD_discovery_cases-case11118.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 179242903
 179426200
  183298
 GRCh38
 Duplication
 Yes
  sajan_13_ACC/CBLH/PMG_discovery_cases-case1118-0
 N/A
 N/A
 ACC
 Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: yes.
 Developmental delay: yes. Intellectual disability: yes.
 179232509
 179529828
  297320
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11118.p1
 11.7
 F
 Autism
 NA
 Full-scale IQ, 93; non-verbal IQ, 104; verbal IQ, 77
 179229022
 179493468
  264447
 GRCh38
 Duplication
 No
  van_daalen_11_ASD_discovery_cases-M1
 6 yrs. 8 mos.
 M
 ASD
 DSM-IV-TR classification: autistic disorder; ADOS-G classification: autism spectrum disorder; ADI-R classification: autistic disorder. SRS score: 90. Family history of ASD and/or intellectual disability. Postnatal growth & neurological disorders. Family phenotypes: father's SRS score, 29; mohter's SRS score, 37; sister1's SRS score, 90 (diagnosis of autistic disorder); sister2's SRS score, 56; brother1's SRS score: unknown.
 Mullen Scales of Early Learning (MSEL) cognitive score: 96
 179077009
 179322389
  245381
 GRCh38
 Deletion
 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
  girirajan_13b_ASD_discovery_controls-17407108057
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  179260598
  179562867
  302270
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-23107108218
  N/A
  N/A
  Control
  Ethnicity: Caucasian
  N/A
  179260598
  179562867
  302270
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-35208110427
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  179294479
  179630502
  336024
  GRCh38
  Deletion
  No
  girirajan_13b_ASD_discovery_controls-50406107159
  N/A
  N/A
  Control
  Ethnicity: Hispanic
  N/A
  179193246
  179562867
  369622
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 girirajan_13b_ASD_discovery_cases-10007107879
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,GNB4
 
 girirajan_13b_ASD_discovery_cases-13107107988
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,GNB4
 
 girirajan_13b_ASD_discovery_cases-21009111337
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,PIK3CA,GNB4
 
 girirajan_13b_ASD_discovery_cases-21908109957
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,PIK3CA,GNB4
 
 girirajan_13b_ASD_discovery_cases-2408108893
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,GNB4
 
 girirajan_13b_ASD_discovery_cases-57804101558
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,PIK3CA,GNB4
 
 girirajan_13b_ASD_discovery_cases-63004102748
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,PIK3CA,GNB4
 
 girirajan_13b_ASD_discovery_cases-909110667
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,PIK3CA,GNB4
 
 girirajan_13b_ASD_discovery_cases-9505103679
 
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,GNB4
 
 krumm_15_ASD_discovery_cases-case11118.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 LRRFIP1P1,ZNF639,KCNMB3,MFN1,GNB4
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-case1118-0
 qPCR
 
 Unknown
 Unknown
 Unknown
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,PIK3CA,GNB4
 
 sanders_11_ASD_discovery_cases-11118.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,PIK3CA,GNB4
 
 van_daalen_11_ASD_discovery_cases-M1
 FISH
 
 De novo
 Multiplex
 Not segregated
 LRRFIP1P1,KCNMB3,PIK3CA
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_controls-17407108057
 
 
  Unknown
 
 
  LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,GNB4
 
girirajan_13b_ASD_discovery_controls-23107108218
 
 
  Unknown
 
 
  LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,GNB4
 
girirajan_13b_ASD_discovery_controls-35208110427
 
 
  Unknown
 
 
  ZNF639,MTHFD2P7,MFN1,MRPL47,NDUFB5,GNB4,ACTL6A
 
girirajan_13b_ASD_discovery_controls-50406107159
 
 
  Unknown
 
 
  LRRFIP1P1,ZNF639,MTHFD2P7,KCNMB3,MFN1,PIK3CA,GNB4
 

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