2p24.2-p24.1CNV Type: Deletion
Largest CNV size: 34351 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Copy number variants in extended autism spectrum disorder families reveal candidates potentially involved in autism risk.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
salyakina_11_ASD_discovery_cases
ASD patients from extended ASD families (defined as families with at least two affected cousins)
97
ASD. Inclusion criteria: (1) age between 3 and 21 yrs of age; (2) presumptive clinical diagnosis of ASD; (3) diagnosis determined using DSM-IV criteria supported by ADI-R; (4) IQ > 35 or developmental level >18 months as described by VABS
Range, 3-21 yrs.
34351
2
0
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
salyakina_11_ASD_discovery_controls
Pediatric control samples recruited by Hussman Institute for Human Genomics (HHIG, Univ. of Miami) and Centennial Medical Center (Nashville, TN) as part of preterm birth study (Nashville Borth Cohort, NBC)
838
Controls. Exclusion criteria: participants, or those with first degree relatives, with developmental, behavioral, or neurological conditions
34351
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
salyakina_11_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1Mv1_C BeadChip or Illumina 1M-DuoV3 BeadChip
PennCNV
BeadStudio v3
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
salyakina_11_ASD_discovery_controls
727 Caucasian, 111 African-American
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
salyakina_11_ASD_discovery_cases-7745_001
M
PDD-NOS
ADHD symptoms. Previous diagnoses of OCD, Schizophrenia, and Tourettes. Language delay, regression of social interest. Borderline macrocephaly.
19014015
19036861
22847
GRCh38
Deletion
Yes
salyakina_11_ASD_discovery_cases-7745_104
M
PDD-NOS
Language delay
19014015
19036861
22847
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
salyakina_11_ASD_discovery_cases-7745_001
qPCR
Maternal
Simplex
Segregated
LINC01376
salyakina_11_ASD_discovery_cases-7745_104
qPCR
Maternal
Simplex
Segregated
LINC01376
Controls
No Control Data Available
No Animal Model Data Available