8p12-p11.1CNV Type: Duplication
Largest CNV size: 7909899 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 8p12-p11.1 duplication was identified in an ASD proband from a simplex family in Guo et al., 2018.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Duplication
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
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
7909899
0
1
1
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
guo_18_ASD/DD/ID_discovery_cases-caseBK-132-03
N/A
F
ASD
GI problems
FSIQ 85, NVIQ 89, VIQ 85
35779804
43689703
7909900
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guo_18_ASD/DD/ID_discovery_cases-caseBK-132-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MTCYBP19,MTND6P19,MTND5P41,RNU6-533P,RPL23P10,RNA5SP264,TPT1P8,SMARCE1P4,RNU6-607P,RN7SL709P,GOT1L1,ADRB3,RPL12P48,RNU6-988P,STAR,RNU6-323P,PLPP5,RPS20P22,TCIM,RNU6-356P,MIR548AO,RPS29P2,RNU6-895P,SNORD65B,KRT18P37,MIR486-1,MIR486-2,RN7SL149P,RPL5P23,DKK4,THAP1,RN7SL806P,MIR4469,VN1R46P,AFG3L2P1,RNU6-104P,SNX18P27,CYP4F44P,ZNF703,PLPBP,ADGRA2,BRF2,EIF4EBP1,LSM1,BAG4,RNF5P1,HTRA4,TM2D2,RPL3P10,ADAM2,IDO1,SIRLNT,GOLGA7,GINS4,GPAT4,NKX6-3,AP3M2,IKBKB,POLB,VDAC3,SMIM19,CHRNA6,FNTA,RNU1-124P,HGSNAT,POTEA,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,UNC5D,ERLIN2,TACC1,ZMAT4,HOOK3,KAT6A
Controls
No Control Data Available
No Animal Model Data Available