Copy Number Variants / 13q14.3-q21.31


Average Length
Associated Human Genes
Associated Animal Models
Autism Reports
1 (1 case / 0 control)
1 (1 case / 0 control)

This singleton CNV was identified in a male ASD patient and demonstrated the autism risk-conferring potential of the DIAPH3 gene.

Reports related to 13q14.3-q21.31 (1 Reports)
# Type Title Author, Year
1 Major A double hit implicates DIAPH3 as an autism risk gene. Vorstman JA , et al. (2010)
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Male ASD proband (referred to child psychiatry outpatient clinic at University Medical Center Utrecht, the Netherlands, at 12 yrs.)


ASD (DSM-IV diagnostic criteria)

Vorstman JA , et al. (2010)
Cohort Size: 1

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 10256660

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:


Validation Method:

Solid phase hybridization (Illumina 550K)

Platform: -
Software: -
Algorithm: -
Geographical Ancestry: Dutch
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Clinical Profile:

Fulfilled DSM-IV diagnostic criteria for ASD (clinical consensus & ADI-R/ADOS-G results); problems with attention span & increased impulsivity (did not meet criteria for ADHD); small stature, normal weight & head circumference; mild dysmorphic features; hypermetropic vision in both eyes; mild lumbar lordosis & small difference in leg length; normal EEG and MRI. Proband also has point mutation in DIAPH3 gene on paternal chromosome.

Cognitive Profile:

Normal cognitive abilities (full IQ=98; verbal IQ=93; performance IQ=105)

Vorstman JA , et al. (2010)
Primary Diagnosis: ASD

Age: 13

Gender: M
Primary Disorder Inheritence: -

Family Profile: NA
CNV Start: 53333292
CNV End: 63589953
CNV Size: 10256660
Validation Description: Solid phase hybridization (Illumina 550K)
Primary Disorder Inheritence: -
CNV Inheritance: Maternal
Family Profile: NA
Genome Build: GRCh38
Gene Content: ZNF646P1, MIR1297, RPL13AP25, MIR5007, HNF4GP1, SPATA2P1, RN7SKP6, PRR20A, PRR20B, PRR20D, PRR20E, PRR20FP, MTCO2P3, SLC25A5P4, RPL31P53, RNA5SP30, RNY4P29, CTAGE16P, DNAJA1P1, HMGN2P39, POLR3KP1, RPP40P2, RNU7-88P, RN7SL375P, RNY4P28, LINC00434, TARDBPP2, RNA5SP31, RNY3P5, MIR3169, PCDH20, LINC02339, RAC1P8, LINC01074, RPL32P28, LINC02335, LINC00374, DIAPH3-AS2, EIF4A1P6, LINC01442, LINC00358, LINC01075, LINC00459, SQSTM1P1, LINC00448, LINC00558, LINC00458, PRR20C, LINC02338, DIAPH3-AS1, TDRD3, LINC00378, LINC00376, PCDH17, DIAPH3
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No control populations reported.

Show all Control Details Show all Cohort Details

No control individuals reported.

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