6q14.3-q16.1CNV Type: Deletion
Largest CNV size: 6428531 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 6q14.3-q16.1 deletion was identified in an individual presenting with ASD, developmental delay, and severe intellectual disability in Engwerda et al., 2018.
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engwerda_18_ASD/DD/ID_discovery_cases
Newly identified individuals with proximal 6q deletions recruited by the Chromosome 6 Project
20
Developmental delay, intellectual disability, autism spectrum disorder, connective tissue disorders, and/or heart defects were among the most frequently observed phenotypes in this cohort
Median age: 5 years 5 months
65.0% Male
6428531
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engwerda_18_ASD/DD/ID_discovery_cases
European
aCGH, array SNP, solid phase hybridization
Affymetrix, Agilent, BlueGnome, CMA (OLIGO V6.4), Illumina, Oligo HD Scan
None
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engwerda_18_ASD/DD/ID_discovery_cases-caseId044
N/A
N/A
ASD, developmental delay and intellectual disability
Case presents with ASD and developmental delay
Severe intellectual disability (IQ < 30)
87217387
93612756
6395370
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engwerda_18_ASD/DD/ID_discovery_cases-caseId044
No validation reported
De novo
HSPD1P10,ST13P16,RNU6-444P,RN7SL183P,ACTBP8,RNU2-61P,PNRC1,RN7SL336P,TUBB3P1,NACAP7,RN7SL11P,DNAJC19P6,RPL22P14,RN7SKP110,MIR4464,MIR4643,MTATP6P25,MTND4LP19,MTCO1P56,RN7SL415P,RPL5P19,LINC02531,ATF1P1,COPS5P1,SMIM8,C6orf163,SLC35A1,ORC3,SPACA1,CNR1,SRSF12,PM20D2,GABRR1,UBE2J1,LYRM2,CASP8AP2,CASC6,ZNF292,GJB7,CFAP206,RARS2,AKIRIN2,RNGTT,GABRR2,RRAGD,ANKRD6,MDN1,GJA10,MAP3K7,BACH2,EPHA7
Controls
No Control Data Available
No Animal Model Data Available