8p11.23-p11.21CNV Type: Duplication
Largest CNV size: 6412784 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo duplication encompassing this region was identified in a male ASD proband from SSC quad family 13876 (Krumm et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Transmission disequilibrium of small CNVs in simplex autism.
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
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
6412784
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
krumm_13_ASD_discovery_cases-case13876.p1
N/A
M
ASD
ASD proband from SSC quad family 13876. SRS score of 82.
Full-scale IQ (FSIQ) score of 40.
36784410
43199569
6415160
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
krumm_13_ASD_discovery_cases-case13876.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
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,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,KCNU1,LINC01605,RAB11FIP1,ASH2L,DDHD2,NSD3,LETM2,FGFR1,C8orf86,PLEKHA2,ADAM9,ADAM32,ADAM5,ADAM3A,ADAM18,IDO2,SFRP1,ANK1,PLAT,SLC20A2,CHRNB3,RNF170,POMK,ERLIN2,TACC1,ZMAT4,HOOK3,KAT6A
Controls
No Control Data Available
No Animal Model Data Available