18q21.1-q23CNV Type: Duplication
Largest CNV size: 30262526 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
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
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
30262526
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
31820499
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000964
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
50068129
80252149
30184021
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case1-0397-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: born with congenital heart disease
48730630
80259271
31528642
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000964
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,MALT1
yuen_17_ASD_discovery_cases-case1-0397-003
Affymetrix 6.0
Unknown
Simplex
Unknown
MIR4744,PRR13P4,RPL17-C18orf32,MIR1539,RPL17,SNORD58C,SNORD58A,SNORD58B,SMUG1P1,SCARNA17,RNA5SP457,ADAD1P2,MIR4320,RN7SL310P,MBD1,RNA5SP458,RPLP0P11,HNRNPA3P16,RPL17P46,SRSF10P1,RNU1-46P,SS18L2P2,RSL24D1P9,RPS8P3,VN1R76P,MIR4528,RPL29P32,SNORA37,SNRPGP2,RPSAP57,MAP1LC3P,RNA5SP459,MIR4529,RPL21P126,LINC01415,LINC02565,RNU6-737P,RNU6-742P,RSL24D1P11,LINC01897,HMGN1P30,MIR122HG,MIR122,MIR3591,SNORA108,RPL9P31,MRPL37P1,RNU6-219P,RNU2-69P,RAX,RPS26P54,GLUD1P4,PMAIP1,NFE2L3P1,RN7SL342P,SDCCAG3P1,SINHCAFP2,RNU6-567P,RPS3AP49,RNU4-17P,MC4R,MRPS5P4,CTBP2P3,HMGN1P31,RNU6-116P,RPL30P14,RPIAP1,RPL17P44,ACTBP9,RN7SL705P,RNU6-142P,ATP5MC1P6,SERPINB12,SERPINB4,SERPINB3,RPL12P39,PRPF19P1,RNU6-1037P,MIR5011,RPL31P9,DSEL,LINC01912,AKR1B10P2,RNU6-39P,SDHCP1,LINC01910,LARP7P3,RPS2P6,RN7SL795P,HNRNPA1P11,RNA5SP460,MIR548AV,RN7SL401P,RN7SL551P,FAUP1,LINC01922,LINC01893,LINC00683,ARL2BPP1,CCND3P2,RNU6-346P,RPL26P35,BDP1P,RNA5SP461,RNU6-655P,LINC01896,SLC25A6P4,SMAD7,C18orf32,SRP72P1,LIPG,SNHG22,CFAP53,CXXC1,SKA1,MRO,ME2,SMAD4,MEX3C,LINC01917,LINC01919,MBD2,POLI,STARD6,C18orf54,DYNAP,LINC01929,TCF4-AS1,TCF4-AS2,LINC01416,LINC01905,WDR7-OT1,LINC-ROR,ST8SIA3,ONECUT2,FECH,NARS,LINC01926,OACYLP,SEC11C,GRP,CPLX4,LMAN1,LINC01544,ZCCHC2,KDSR,VPS4B,SERPINB5,SERPINB13,SERPINB7,SERPINB2,SERPINB10,SERPINB8,LINC01916,LINC01903,SOCS6,LINC01909,LIVAR,LINC01899,LINC02582,FBXO15,TIMM21,CYB5A,CNDP2,LINC00909,ZADH2,SMIM21,LINC01898,C18orf65,LINC01927,LINC01879,GALR1,SALL3,KCNG2,PQLC1,HSBP1L1,TXNL4A,RBFA,ADNP2,PARD6G-AS1,CTIF,ACAA2,MYO5B,MAPK4,ELAC1,RAB27B,CCDC68,LINC01539,WDR7,BOD1L2,NEDD4L,ALPK2,ZNF532,CCBE1,CDH20,PIGN,RELCH,TNFRSF11A,BCL2,SERPINB11,LINC01924,LINC00305,LINC01538,CDH7,CDH19,TMX3,CCDC102B,DOK6,CD226,RTTN,GTSCR1,LINC01541,CBLN2,NETO1,C18orf63,CNDP1,ZNF407,TSHZ1,ZNF516,ZNF236-DT,ZNF236,MBP,LINC01029,ATP9B,NFATC1,RBFADN,PARD6G,DYM,LINC01630,DCC,TCF4,TXNL1,ATP8B1,RNF152,PHLPP1,HMSD,LINC00908,CTDP1,MALT1
Controls
No Control Data Available
No Animal Model Data Available