1p22.1-p21.3CNV Type: Deletion
Largest CNV size: 3011000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Minor Reports
Title
Author, Year
Report Class
CNV Type
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Large-scale discovery of novel genetic causes of developmental disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
5038952
1
0
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
3011000
1
0
1
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
2167346
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
2167346
1
0
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
None
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
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
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
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
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264030
N/A
F
Developmental delay
Global developmental delay; Generalized hypotonia; Polyphagia; Abnormal facial shape; Astigmatism; Constipation
93345926
98384879
5038954
GRCh38
Deletion
No
girirajan_13a_ASD_discovery_cases-13346.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
93081855
96091856
3010002
GRCh38
Deletion
No
krumm_13_ASD_discovery_cases-case13346.p1
N/A
F
ASD
ASD proband from SSC quad family 13346. SRS score of 84.
Full-scale IQ (FSIQ) score of 59.
93079523
95246870
2167348
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case13346.p1
N/A
Female
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
93079523
95246870
2167348
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER264030
De novo
Simplex
Segregated
RNA5SP53,MIR760,DNTTIP2,CHCHD2P5,MTND4P11,MTND3P21,MTCO3P21,MTATP6P13,MTCO2P21,MTCO1P21,RN7SL440P,GAPDHP29,KATNBL1P2,MIR378G,LINC01760,LINC01650,LINC01761,RNU1-130P,UBE2WP1,EEF1A1P11,RN7SL831P,NDUFS5P2,RPL7P9,RN7SKP270,SEC63P1,RPL26P9,DPYD-AS2,MIR2682,MIR137,NFU1P2,DR1,GCLM,F3,SLC44A3,CNN3,RWDD3,DPYD-IT1,LINC01776,FNBP1L,BCAR3,ABCA4,ARHGAP29,ABCD3,SLC44A3-AS1,ALG14,TMEM56,TMEM56-RWDD3,LINC01787,PTBP2,DPYD-AS1,MIR137HG,CCDC18-AS1,DPYD
girirajan_13a_ASD_discovery_cases-13346.p1
Unknown
Simplex
Unknown
RNA5SP53,MIR760,DNTTIP2,CHCHD2P5,MTND4P11,MTND3P21,MTCO3P21,MTATP6P13,MTCO2P21,MTCO1P21,RN7SL440P,GAPDHP29,KATNBL1P2,MIR378G,LINC01760,LINC01650,LINC01761,MTF2,TMED5,DR1,GCLM,F3,SLC44A3,CNN3,RWDD3,CCDC18,FNBP1L,BCAR3,ABCA4,ARHGAP29,ABCD3,SLC44A3-AS1,ALG14,TMEM56,TMEM56-RWDD3,CCDC18-AS1
krumm_13_ASD_discovery_cases-case13346.p1
Solid phase hybridization (Illumina 1M) or aCGH (Agilent SurePrint G3 4x180K)
De novo
Simplex
Segregated
RNA5SP53,MIR760,DNTTIP2,CHCHD2P5,MTND4P11,MTND3P21,MTCO3P21,MTATP6P13,MTCO2P21,MTCO1P21,RN7SL440P,GAPDHP29,KATNBL1P2,MIR378G,MTF2,TMED5,DR1,GCLM,F3,SLC44A3,CNN3,RWDD3,CCDC18,FNBP1L,BCAR3,ABCA4,ARHGAP29,ABCD3,SLC44A3-AS1,ALG14,TMEM56,TMEM56-RWDD3,CCDC18-AS1
krumm_15_ASD_discovery_cases-case13346.p1
1M-Duov3
De novo
Simplex
Segregated
RNA5SP53,MIR760,DNTTIP2,CHCHD2P5,MTND4P11,MTND3P21,MTCO3P21,MTATP6P13,MTCO2P21,MTCO1P21,RN7SL440P,GAPDHP29,KATNBL1P2,MIR378G,MTF2,TMED5,DR1,GCLM,F3,SLC44A3,CNN3,RWDD3,CCDC18,FNBP1L,BCAR3,ABCA4,ARHGAP29,ABCD3,SLC44A3-AS1,ALG14,TMEM56,TMEM56-RWDD3,CCDC18-AS1
Controls
No Control Data Available
No Animal Model Data Available