18p11.32-q11.1CNV Type: Duplication
Largest CNV size: 16739117 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Duplications within this region were identified in two cases 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
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
akkus_24_ASD/DD/ID_discovery_cases
Patients with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies consulted by the Department of Medical Genetics at the Health Sciences University Kocaeli Derince Training and Research Hospital between January 1, 2017 and March 30, 2021.
1227
Patients presented with developmental delay/intellectual disability, autism spectrum disorder, and/or multiple congenital anomalies.
57.13% Male
20805098
0
2
2
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
16739117
0
2
2
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
20673250
0
2
2
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
18462499
1
0
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
akkus_24_ASD/DD/ID_discovery_cases
Turkey
Array SNP
Affymetrix CytoScan Optima
ThermoFisher ChAS v.3.1.
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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
akkus_24_ASD/DD/ID_discovery_cases-case71A
12 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability
Developmental delay/intellectual disability
136227
20941324
20805098
GRCh38
Triplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001203
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
148963
21040153
20891191
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002528
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
53345
20948503
20895159
GRCh38
Duplication
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530623
M
Developmental delay
Global developmental delay (HP:0001263)
1
20673250
20673250
GRCh38
Triplication
No
yuen_17_ASD_discovery_cases-case1-0755-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Dysmorphic Features; Developmental Delay
48501
20931039
20882539
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
akkus_24_ASD/DD/ID_discovery_cases-case71A
Unknown
CIDEA,LDLRAD4,ADCYAP1,CETN1,CLUL1,ENOSF1,CEP192,PSMG2,SPIRE1,CHMP1B,TWSG1,LINC00470,OR4K7P,ARHGAP28,PIEZO2,METTL4,MPPE1,CEP76,EMILIN2,COLEC12,TXNDC2,SEH1L,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,FAM210A,APCDD1,C18orf15,LINC00526,IGLJCOR18,DLGAP1-AS3,ZNF519,RAB12,IMPA2,GNAL,LAMA1,DLGAP1-AS5,CYP4F35P,ANKRD62,LRRC30,LINC00667,POTEC,LINC01904,ANKRD30B,FGF7P1,OR4K8P,FEM1AP2,LINC01443,PMM2P1,LINC00668,CXADRP3,ANKRD20A5P,AKAIN1,TYMSOS,EIF4A2P1,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,TERF1P2,SLC25A51P2,GAPDHP66,SNX19P3,DLGAP1-AS1,SLC35G4,RPL6P27,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,MC5R,NDUFV2,NF1P5,MC2R,RNU7-25P,GACAT2,RPL21P127,RPL31P59,LDLRAD4-AS1,SDHDP1,VN1R74P,SNRPCP4,ZNF415P1,THEMIS3P,LONRF2P1,BNIP3P3,KATNBL1P3,SCML2P1,MIR3156-2,GAPLINC,ASNSP6,RHOT1P1,MIR4317,SLC25A3P3,MIR4526,STK25P1,MIR3976,MIR5190,BOLA2P1,GRAMD4P7,RNU5F-3P,RNA5SP450,RNA5SP449,LINC01882,DLGAP1-AS4,GTF2IP8,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,LINC01444,L3MBTL4-AS1,PTPRM,PPIAP14,PTPN2,MIR7153,MIR6718,TWSG1-DT,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01906,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,FRG2LP,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RNU6-316P,RN7SL362P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RNU6-1021P,RN7SKP72,RNU6-721P,RNU6-903P,RNU6-831P,RNU2-27P,RNU6-1210P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,CEP192-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001203
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,PTPRM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002528
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,ROCK1,PTPRM
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530623
Unknown
CIDEA,LDLRAD4,ADCYAP1,CETN1,CLUL1,ENOSF1,CEP192,PSMG2,SPIRE1,CHMP1B,TWSG1,LINC00470,OR4K7P,ARHGAP28,PIEZO2,METTL4,MPPE1,CEP76,EMILIN2,COLEC12,TXNDC2,SEH1L,L3MBTL4,MYL12B,DLGAP1-AS2,TUBB6,KRT18P8,FAM210A,APCDD1,C18orf15,LINC00526,IGLJCOR18,DLGAP1-AS3,ZNF519,RAB12,IMPA2,GNAL,LAMA1,TUBB8B,DLGAP1-AS5,CYP4F35P,ANKRD62,LRRC30,LINC00667,POTEC,LINC01904,ANKRD30B,FGF7P1,OR4K8P,FEM1AP2,LINC01443,PMM2P1,LINC00668,CXADRP3,ANKRD20A5P,AKAIN1,TYMSOS,EIF4A2P1,MIX23P1,TMEM200C,CBX3P2,MIR3976HG,RPS4XP19,PMM2P2,TERF1P2,SLC25A51P2,GAPDHP66,SNX19P3,DLGAP1-AS1,SLC35G4,RPL6P27,ROCK1P1,CHORDC1P4,KIAA0895LP1,COP1P1,MIX23P3,NPIPB1P,AKR1B1P6,COX6CP3,BOD1P1,BOD1P2,LINC01387,AIDAP3,MC5R,NDUFV2,NF1P5,MC2R,IL9RP4,RNU7-25P,GACAT2,RPL21P127,RPL31P59,LDLRAD4-AS1,SDHDP1,VN1R74P,SNRPCP4,ZNF415P1,THEMIS3P,LONRF2P1,BNIP3P3,KATNBL1P3,SCML2P1,MIR3156-2,GAPLINC,ASNSP6,RHOT1P1,MIR4317,SLC25A3P3,MIR4526,STK25P1,MIR3976,MIR5190,BOLA2P1,GRAMD4P7,RNU5F-3P,RNA5SP450,RNA5SP449,LINC01882,DLGAP1-AS4,GTF2IP8,PPP4R1-AS1,LINC01254,LINC01255,ARHGAP28-AS1,NDUFV2-AS1,PPIAP56,LINC01444,L3MBTL4-AS1,PTPRM,PPIAP14,PTPN2,MIR7153,MIR6718,MIR8078,TWSG1-DT,LINC02564,MIR6788,MYL12-AS1,LINC01887,LINC01895,LINC01892,LINC01906,LINC01928,LINC01925,RN7SKP146,RN7SL39P,RN7SL50P,TYMS,TGIF1,FRG2LP,RNU6-340P,TOMM20P3,RNU6-170P,RN7SL282P,RNU6-324P,RN7SL862P,RNU6-349P,RNU6-316P,RN7SL362P,RNU7-129P,PIGPP4,RNU6-916P,RNU1-109P,RNU6-1021P,RN7SKP72,RNU6-721P,RNU6-903P,RNU6-831P,RNU2-27P,RNU6-1210P,ELOCP27,CHMP1B-AS1,LINC02856,RNMT,NAPG,ZBTB14,MYOM1,YES1,THOC1-DT,CEP192-DT,DLGAP1,USP14,LPIN2,THOC1,VAPA,PPP4R1,RAB31,PRELID3A,NDC80,MYL12A,AFG3L2,RALBP1,SMCHD1,MTCL1,ANKRD12,EPB41L3
yuen_17_ASD_discovery_cases-case1-0755-003
Affymetrix CytoScan HD
De novo
Simplex
Segregated
MIR8078,LINC01925,CETN1,RN7SKP146,RNU1-109P,BOLA2P1,ADCYAP1,LINC01904,COX6CP3,RN7SKP72,KATNBL1P3,RNU6-340P,SNRPCP4,RNU7-25P,MYL12A,LINC01895,RPL31P59,IGLJCOR18,RPL21P127,BOD1P1,RN7SL39P,DLGAP1-AS1,MIR6718,RNU6-831P,GAPDHP66,PPIAP14,BOD1P2,LINC00526,MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,LINC01928,SLC35G4,MIR7153,CHMP1B,CHMP1B-AS1,RNU6-324P,SDHDP1,CCDC58P3,PPIAP56,RNU6-170P,RNU7-129P,STK25P1,EIF4A2P1,C18orf15,LDLRAD4-AS1,MIR5190,MIR4526,RN7SL362P,MC5R,FRG2LP,RNU6-316P,RHOT1P1,CYP4F35P,TERF1P2,FEM1AP2,GRAMD4P7,RNU6-1021P,OR4K7P,OR4K8P,VN1R74P,RNU6-1210P,MIR3156-2,LINC01906,FGF7P1,LINC01444,BNIP3P3,RNU6-721P,TUBB8P12,IL9RP4,ROCK1P1,USP14,CLUL1,TYMS,ENOSF1,METTL4,NDC80,CBX3P2,LPIN2,TGIF1,GAPLINC,DLGAP1-AS2,DLGAP1-AS3,DLGAP1-AS4,DLGAP1-AS5,LINC01892,AKAIN1,ZBTB14,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,NAPG,LINC01255,NPIPB1P,ASNSP6,MPPE1,IMPA2,ANKRD62,CIDEA,AFG3L2,PRELID3A,CEP76,FAM210A,ZNF519,ANKRD20A5P,LONRF2P1,CXADRP3,POTEC,SNX19P3,GTF2IP8,LINC01443,THOC1,COLEC12,TYMSOS,YES1,LINC00470,SMCHD1,EMILIN2,MYL12B,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,GNAL,TUBB6,PSMG2,PTPN2,SEH1L,CEP192,RNMT,MC2R,NF1P5,ANKRD30B,MYOM1,DLGAP1,LINC00667,L3MBTL4,APCDD1,SPIRE1,LDLRAD4,PTPRM
Controls
No Control Data Available
No Animal Model Data Available