12p11.1-q12CNV Type: Duplication
Largest CNV size: 5185251 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A paternally-transmitted duplication within this region was identifed in an ASD proband from the Simons Simplex Collection but not in the proband's unaffected sibling (Krumm et al., 2015).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
5185251
0
2
2
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
5179494
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
5182496
0
1
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
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_15_ASD_discovery_cases-case11463.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33376829
38321213
4944385
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case14228.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
33376829
38318458
4941630
GRCh38
Duplication
Yes
Controls
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_controls-control13739.s1
N/A
M
Control
Unaffected sibling from SSC quad family 13739. SRS score of 37.
33379831
38318458
4938628
GRCh38
Duplication
No (not tested)
krumm_15_ASD_discovery_controls-control14228.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
33376829
38318458
4941630
GRCh38
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_15_ASD_discovery_cases-case11463.p1
Illumina 1M
Paternal
Simplex
Segregated
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ZNF970P,AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10,ALG10B,SYT10
krumm_15_ASD_discovery_cases-case14228.p1
Omni2.5-4v1
Paternal
Simplex
Not segregated (CNV in unaffected sibling)
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ZNF970P,AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10,ALG10B,SYT10
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
krumm_13_ASD_discovery_controls-control13739.s1
Maternal
Simplex
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ZNF970P,AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10,ALG10B,SYT10
krumm_15_ASD_discovery_controls-control14228.s1
Omni2.5-4v1
Paternal
RNU6-400P,RNU6-472P,TUBB8P4,RNA5SP357,DUX4L27,AK6P1,ZNF970P,AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,ALG10,ALG10B,SYT10
No Animal Model Data Available