14q11.2-q12CNV Type: Duplication
Largest CNV size: 8366000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
A de novo duplication involving the 14q11.2-q12 region was identified in a male patient with epilepsy and profound developmental delay.
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...
Deletion
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bartnik_12_EP_discovery_cases
102 patients with idiopathic generalized epilepsy (IGE) or epilepsy with other neurodevelopmental disorders
102
Primary diagnosis of epilepsy. 50 cases with isolated epilepsy, 52 cases with epilepsy accompanied by DD/ID, dysmorphism, autism, or other neurological signs.
NA
NA
8366000
0
1
1
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
10700000
0
1
1
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
7573694
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
7300000
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
bartnik_12_EP_discovery_cases
Poland
aCGH
Custom Agilent 180K V8.0 and V8.1 microarrays designed by Medical Genetics Laboratories at Baylor College of Medicine
BCM web-based software, IMiD-web2py
Karyotype
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
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
bartnik_12_EP_discovery_cases-case6
NA
M
Epilepsy and developmental delay
Age of onset of epilepsy: 6 months. Seizure types/epilepsy syndrome: West syndrome evolving into Lennox-Gastaut syndrome; refractory. Parental phenotype: normal.
Profound developmental delay.
22839887
31205966
8366080
GRCh38
Duplication
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_283330
N/A
M
Developmental delay/intellectual disability
20004389
30670373
10665985
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004082
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
20151149
27723796
7572648
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown29
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
23984280
31315589
7331310
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bartnik_12_EP_discovery_cases-case6
Karyotype
De novo
REM2,MIR4707,AJUBA,PSMB11,C14orf119,RNU6-1138P,RNU6-1046P,H3F3AP2,BCL2L2,PABPN1,IL25,CMTM5,MIR208A,MIR208B,BRD7P1,RN7SKP205,LINC00596,DHRS4,DHRS4L1,CPNE6,FITM1,PSME1,EMC9,PSME2,MIR7703,RNA5SP383,REC8,TM9SF1,TSSK4,CHMP4A,GMPR2,TINF2,TGM1,RABGGTA,NOP9,CIDEB,LTB4R2,RIPK3,KHNYN,SDR39U1,CMA1,GZMB,LINC02286,HMGN2P6,OR7K1P,CYB5AP5,MIR4307,MIR3171,BNIP3P1,RPL26P3,EIF4A1P12,BTF3P2,FOXG1,LINC02282,RNU6-864P,RNU11-5P,RNU6-1234P,SYF2P1,UBE2CP1,RPL12P5,HIGD1AP17,MIR624,RPL21P5,RNU6-541P,MMP14,LRP10,RBM23,PRMT5-AS1,PRMT5,HAUS4,C14orf93,PSMB5,CDH24,LMLN2,CEBPE,SLC7A8,HOMEZ,PPP1R3E,BCL2L2-PABPN1,SLC22A17,EFS,MYH6,MYH7,NGDN,ZFHX2-AS1,ZFHX2,THTPA,AP1G2,JPH4,DHRS2,CARMIL3,NRL,PCK2,RNF31,IRF9,IPO4,MDP1,NEDD8-MDP1,NEDD8,DHRS1,LTB4R,ADCY4,NYNRIN,CBLN3,CTSG,GZMH,LINC02294,LINC02293,MIR4307HG,LINC00645,LINC02300,FOXG1-AS1,LINC01551,LINC02281,G2E3,COCH,RNF212B,DHRS4-AS1,DHRS4L2,NFATC4,STXBP6,LINC02306,NOVA1,LINC02588,LINC02327,LINC02326,PRKD1,G2E3-AS1,SCFD1,STRN3,AP4S1,HECTD1,ACIN1,DCAF11
digregorio_17_DD/ID_discovery_cases-DECIPHER_283330
qPCR
Maternal (translocation)
OR4Q2,OR4K14,OR4K13,OR4U1P,OR4L1,RNA5SP380,OR4T1P,OR4N5,PSMB7P1,GTF2IP22,OR11G1P,OR11P1P,OR11G2,OR11H5P,OR11H6,OR11H7,OR11H4,SNORA79B,SNORD126,RPPH1,RNA5SP382,APEX1,PIP4P1,PNP,RNASE10,PTCD2P1,SETP1,RNASE9,RNASE12,OR6S1,RANBP20P,EDDM3DP,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,METTL3,RBBP4P5,OR10G1P,UBE2NP1,TRAV1-1,OR10G2,ARL6IP1P1,OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,OR6E1P,OXA1L,MRPL52,REM2,MIR4707,AJUBA,PSMB11,C14orf119,RNU6-1138P,RNU6-1046P,H3F3AP2,BCL2L2,PABPN1,IL25,CMTM5,MIR208A,MIR208B,BRD7P1,RN7SKP205,LINC00596,DHRS4,DHRS4L1,CPNE6,FITM1,PSME1,EMC9,PSME2,MIR7703,RNA5SP383,REC8,TM9SF1,TSSK4,CHMP4A,GMPR2,TINF2,TGM1,RABGGTA,NOP9,CIDEB,LTB4R2,RIPK3,KHNYN,SDR39U1,CMA1,GZMB,LINC02286,HMGN2P6,OR7K1P,CYB5AP5,MIR4307,MIR3171,BNIP3P1,RPL26P3,EIF4A1P12,BTF3P2,FOXG1,LINC02282,RNU6-864P,RNU11-5P,RNU6-1234P,SYF2P1,OR4K17,TTC5,PARP2,TEP1,KLHL33,RNASE11,RNASE4,ANG,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,RAB2B,SALL2,OR10G3,TRAV1-2,OR4E2,TRAV21,TRAV37,DAD1,ABHD4,OR6J1,MMP14,LRP10,RBM23,PRMT5-AS1,PRMT5,HAUS4,C14orf93,PSMB5,CDH24,LMLN2,CEBPE,SLC7A8,HOMEZ,PPP1R3E,BCL2L2-PABPN1,SLC22A17,EFS,MYH6,MYH7,NGDN,ZFHX2-AS1,ZFHX2,THTPA,AP1G2,JPH4,DHRS2,CARMIL3,NRL,PCK2,RNF31,IRF9,IPO4,MDP1,NEDD8-MDP1,NEDD8,DHRS1,LTB4R,ADCY4,NYNRIN,CBLN3,CTSG,GZMH,LINC02294,LINC02293,MIR4307HG,LINC00645,LINC02300,FOXG1-AS1,LINC01551,LINC02281,G2E3,CCNB1IP1,OSGEP,ZNF219,TMEM253,HNRNPC,SUPT16H,TOX4,SLC7A7,RNF212B,DHRS4-AS1,DHRS4L2,NFATC4,STXBP6,LINC02306,NOVA1,LINC02588,LINC02327,LINC02326,PRKD1,G2E3-AS1,SCFD1,ACIN1,DCAF11
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004082
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
GTF2IP22,OR11G1P,OR11P1P,OR11G2,OR11H5P,OR11H6,OR11H7,OR11H4,SNORA79B,SNORD126,RPPH1,RNA5SP382,APEX1,PIP4P1,PNP,RNASE10,PTCD2P1,SETP1,RNASE9,RNASE12,OR6S1,RANBP20P,EDDM3DP,EDDM3A,EDDM3B,RNASE6,RNASE1,RNASE3,RNASE2,RN7SL189P,METTL17,SLC39A2,MIR6717,TPPP2,RNASE13,RNASE7,RNASE8,CKAP2P1,RNU6-252P,SMARCE1P3,SNORD9,SNORD8,EIF4EBP1P1,RN7SL650P,METTL3,RBBP4P5,OR10G1P,UBE2NP1,TRAV1-1,OR10G2,ARL6IP1P1,OR4E1,TRAV2,TRAV3,TRAV4,TRAV5,RPL4P1,TRAV6,TRAV7,TRAV8-1,TRAV9-1,TRAV10,TRAV11,TRAV12-1,TRAV8-2,TRAV8-3,TRAV13-1,TRAV12-2,TRAV8-4,TRAV8-5,TRAV13-2,TRAV14DV4,TRAV9-2,TRAV15,TRAV12-3,TRAV8-6,TRAV16,TRAV17,TRAV18,TRAV19,TRAV20,TRAV22,TRAV23DV6,TRDV1,TRAV24,TRAV25,TRAV26-1,TRAV8-7,TRAV27,TRAV28,TRAV29DV5,TRAV30,TRAV31,TRAV32,TRAV33,TRAV26-2,TRAV34,TRAV35,TRAV36DV7,TRAV38-1,TRAV38-2DV8,TRAV39,TRAV40,TRAV41,TRDV2,TRDD1,TRDD2,TRDD3,TRDJ1,TRDJ4,TRDJ2,TRDJ3,TRDC,TRDV3,TRAJ61,TRAJ60,TRAJ59,TRAJ58,TRAJ57,TRAJ56,TRAJ55,TRAJ54,TRAJ53,TRAJ52,TRAJ51,TRAJ50,TRAJ49,TRAJ48,TRAJ47,TRAJ46,TRAJ45,TRAJ44,TRAJ43,TRAJ42,TRAJ41,TRAJ40,TRAJ39,TRAJ38,TRAJ37,TRAJ36,TRAJ35,TRAJ34,TRAJ33,TRAJ32,TRAJ31,TRAJ30,TRAJ29,TRAJ28,TRAJ27,TRAJ26,TRAJ25,TRAJ24,TRAJ23,TRAJ22,TRAJ21,TRAJ20,TRAJ19,TRAJ18,TRAJ17,TRAJ16,TRAJ14,TRAJ13,TRAJ12,TRAJ11,TRAJ10,TRAJ9,TRAJ8,TRAJ7,TRAJ6,TRAJ5,TRAJ4,TRAJ3,TRAJ2,TRAJ1,TRAC,LINC02332,OR6E1P,OXA1L,MRPL52,REM2,MIR4707,AJUBA,PSMB11,C14orf119,RNU6-1138P,RNU6-1046P,H3F3AP2,BCL2L2,PABPN1,IL25,CMTM5,MIR208A,MIR208B,BRD7P1,RN7SKP205,LINC00596,DHRS4,DHRS4L1,CPNE6,FITM1,PSME1,EMC9,PSME2,MIR7703,RNA5SP383,REC8,TM9SF1,TSSK4,CHMP4A,GMPR2,TINF2,TGM1,RABGGTA,NOP9,CIDEB,LTB4R2,RIPK3,KHNYN,SDR39U1,CMA1,GZMB,LINC02286,HMGN2P6,OR7K1P,CYB5AP5,MIR4307,MIR3171,TTC5,PARP2,TEP1,KLHL33,RNASE11,RNASE4,ANG,NDRG2,ARHGEF40,OR5AU1,LINC00641,RPGRIP1,CHD8,RAB2B,SALL2,OR10G3,TRAV1-2,OR4E2,TRAV21,TRAV37,DAD1,ABHD4,OR6J1,MMP14,LRP10,RBM23,PRMT5-AS1,PRMT5,HAUS4,C14orf93,PSMB5,CDH24,LMLN2,CEBPE,SLC7A8,HOMEZ,PPP1R3E,BCL2L2-PABPN1,SLC22A17,EFS,MYH6,MYH7,NGDN,ZFHX2-AS1,ZFHX2,THTPA,AP1G2,JPH4,DHRS2,CARMIL3,NRL,PCK2,RNF31,IRF9,IPO4,MDP1,NEDD8-MDP1,NEDD8,DHRS1,LTB4R,ADCY4,NYNRIN,CBLN3,CTSG,GZMH,LINC02294,LINC02293,MIR4307HG,LINC00645,CCNB1IP1,OSGEP,ZNF219,TMEM253,HNRNPC,SUPT16H,TOX4,SLC7A7,RNF212B,DHRS4-AS1,DHRS4L2,NFATC4,STXBP6,LINC02306,NOVA1,LINC02588,ACIN1,DCAF11
maini_18_ASD/DD/ID_discovery_cases-case_unknown29
De novo
Unknown
Unknown
DHRS4L1,CPNE6,FITM1,PSME1,EMC9,PSME2,MIR7703,RNA5SP383,REC8,TM9SF1,TSSK4,CHMP4A,GMPR2,TINF2,TGM1,RABGGTA,NOP9,CIDEB,LTB4R2,RIPK3,KHNYN,SDR39U1,CMA1,GZMB,LINC02286,HMGN2P6,OR7K1P,CYB5AP5,MIR4307,MIR3171,BNIP3P1,RPL26P3,EIF4A1P12,BTF3P2,FOXG1,LINC02282,RNU6-864P,RNU11-5P,RNU6-1234P,SYF2P1,UBE2CP1,RPL12P5,HIGD1AP17,MIR624,RPL21P5,RNU6-541P,CARMIL3,NRL,PCK2,RNF31,IRF9,IPO4,MDP1,NEDD8-MDP1,NEDD8,DHRS1,LTB4R,ADCY4,NYNRIN,CBLN3,CTSG,GZMH,LINC02294,LINC02293,MIR4307HG,LINC00645,LINC02300,FOXG1-AS1,LINC01551,LINC02281,G2E3,COCH,DHRS4-AS1,DHRS4L2,NFATC4,STXBP6,LINC02306,NOVA1,LINC02588,LINC02327,LINC02326,PRKD1,G2E3-AS1,SCFD1,STRN3,AP4S1,HECTD1,HEATR5A,DCAF11
Controls
No Control Data Available
No Animal Model Data Available