14q31.3-q32.33CNV Type: Duplication
Largest CNV size: 20681787 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
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with 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
20681787
0
1
1
munnich_19_ASD_discovery_cases
Children and young adults with ASD recruited from 26 day-care hospitals and specialized institutions within the Greater Paris region
502
Diagnosis of ASD based on DSM criteria, with standardized clinical assessment performed using CARS, ADOS, and/or ADI-R
< 10 years, 34 cases; 11-20 years, 194 cases; 21-30 years, 211 cases; > 30 years, 63 cases
69.92% Male
19000000
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
munnich_19_ASD_discovery_cases
France
aCGH, karyotyping
Agilent 60K
FISH
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-ISCA00002128
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
86094030
106832642
20738613
GRCh38
Duplication
Yes
munnich_19_ASD_discovery_cases-case28
N/A
M
ASD
Case diagnosed with ASD based on DSM criteria. CNV detected by aCGH (Agilent 60K)
87746480
106850609
19104130
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-ISCA00002128
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SHLD2P2,RNU6-835P,GPR65,RNU4-22P,RNU4-92P,MPPE1P1,CAP2P1,FOXN3-AS1,FOXN3-AS2,RN7SKP107,RN7SKP255,CHORDC2P,RAB42P1,GLRXP2,RPL21P11,LINC02317,LINC02321,RNU7-30P,SNORA11B,POLR3GP1,NANOGP7,NDUFB1,RNU6-366P,LINC02287,ITPK1-AS1,MOAP1,TMEM251,GON7,COX8C,RNU6-1258P,MIR4506,IFI27L2,SERPINA2,SERPINA11,SERPINA13P,RPSAP4,GSC,RPL15P2,MIR3173,LINC02292,SNHG10,SCARNA13,LINC02318,TCL1B,TCL1A,RNU2-33P,PEBP1P1,RPL23AP10,RN7SKP108,LINC02295,RN7SL714P,RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,MIR6764,MIR345,SLC25A47,RN7SKP92,MIR2392,MIR770,MIR493,MIR337,MIR665,MIR431,MIR433,MIR127,MIR432,MIR136,SNORD112,MIR370,SNORD113-1,SNORD113-2,SNORD113-3,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-8,SNORD113-9,SNORD114-1,SNORD114-2,SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-9,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MIR379,MIR411,MIR299,MIR380,MIR1197,MIR323A,MIR758,MIR329-1,MIR329-2,MIR494,MIR1193,MIR543,MIR495,MIR376C,MIR654,MIR376B,MIR376A1,MIR300,MIR1185-1,MIR1185-2,MIR381HG,MIR381,MIR487B,MIR539,MIR889,MIR544A,MIR655,MIR487A,MIR382,MIR134,MIR668,MIR485,MIR323B,MIR154,MIR496,MIR377,MIR541,MIR409,MIR412,MIR369,MIR410,MIR656,LINC00524,LINC02314,DIO3OS,MIR1247,DIO3,LINC00239,RNU6-790P,RN7SL472P,RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,RNU6-1316P,RPL13P6,NDUFB4P11,RPL21P12,GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,CEND1P1,C14orf180,LINC02280,MIR4710,ZBTB42,LINC00638,RPS26P49,RPS2P4,PLD4,CDCA4,LINC02298,MIR6765,NUDT14,RPS20P33,CRIP2,CRIP1,ATP5MC1P1,ELK2BP,IGHA2,IGHE,IGHG4,MIR8071-1,MIR8071-2,IGHGP,ELK2AP,IGHA1,IGHEP1,IGHG3,IGHM,MIR4539,MIR4507,MIR4538,MIR4537,IGHJ6,IGHJ3P,IGHJ5,IGHJ4,IGHJ3,IGHJ2P,IGHJ2,IGHJ1,IGHD7-27,IGHJ1P,IGHD1-26,IGHD6-25,IGHD5-24,IGHD4-23,IGHD3-22,IGHD2-21,IGHD1-20,IGHD6-19,IGHD5-18,IGHD4-17,IGHD3-16,IGHD2-15,IGHD1-14,IGHD6-13,IGHD5-12,IGHD4-11,IGHD3-10,IGHD3-9,IGHD2-8,IGHD1-7,IGHD6-6,IGHD5-5,IGHD4-4,IGHD3-3,IGHD2-2,IGHD1-1,IGHV6-1,IGHVII-1-1,IGHV1-2,IGHVIII-2-1,IGHV1-3,IGHV4-4,IGHV7-4-1,IGHV2-5,IGHVIII-5-1,IGHVIII-5-2,IGHV3-6,IGHV3-7,IGHV3-64D,IGHV5-10-1,IGHV3-11,IGHVIII-11-1,IGHV1-12,IGHV3-13,IGHVIII-13-1,IGHV1-14,IGHV3-15,IGHVII-15-1,IGHV3-16,IGHVIII-16-1,IGHV1-17,SLC20A1P2,IGHV1-18,IGHV3-19,IGHV3-20,IGHV3-21,IGHV3-22,IGHVII-22-1,IGHVIII-22-2,IGHV3-23,IGHV1-24,HOMER2P2,LINC00226,IGHV3-25,IGHVIII-25-1,IGHV2-26,IGHVIII-26-1,IGHVII-26-2,IGHV7-27,IGHV4-28,IGHVII-28-1,IGHV3-32,IGHV3-30,IGHVII-30-1,IGHV3-30-2,IGHV4-31,IGHVII-30-21,IGHV3-29,IGHV3-33,IGHVII-33-1,IGHV3-33-2,IGHV4-34,IGHV7-34-1,IGHV3-35,IGHV3-36,IGHV3-37,IGHV3-38,IGHVIII-38-1,IGHV4-39,IGHV7-40,IGHVII-40-1,IGHV3-41,HOMER2P1,IGHV3-42,IGHV3-43,IGHVII-43-1,IGHVIII-44,IGHVIV-44-1,IGHVII-44-2,IGHV1-45,IGHV1-46,IGHVII-46-1,IGHV3-47,IGHVIII-47-1,IGHV3-48,IGHV3-49,IGHVII-49-1,IGHV3-50,IGHV5-51,IGHVIII-51-1,IGHVII-51-2,IGHV3-52,IGHV3-53,IGHVII-53-1,IGHV3-54,IGHV4-55,IGHV7-56,IGHV3-57,IGHV1-58,IGHV4-59,IGHV3-60,RNA5SP389,IGHVII-60-1,IGHV4-61,IGHVII-62-1,IGHV3-63,IGHV3-64,IGHV3-65,IGHVII-65-1,IGHV3-66,IGHV1-67,SLC20A1P1,IGHVII-67-1,IGHVIII-67-2,IGHVIII-67-3,IGHVIII-67-4,IGHV1-68,IGHV1-69,IGHV2-70D,IGHV3-69-1,IGHV1-69-2,IGHV1-69D,IGHV2-70,IGHV3-71,IGHV3-73,IGHV3-74,IGHVII-74-1,IGHV3-75,IGHV3-76,IGHVIII-76-1,LINC01148,LINC02330,SPATA7,TDP1,PSMC1,CALM1,LINC00642,GPR68,TC2N,ATXN3,LGMN,UBR7,PRIMA1,FAM181A-AS1,FAM181A,ASB2,CCDC197,OTUB2,DDX24,IFI27L1,SERPINA10,SERPINA6,SERPINA1,SERPINA9,SERPINA4,SERPINA5,SERPINA3,LINC02279,DICER1,GLRX5,TCL6,TUNAR,CKS1BP1,BDKRB1,GSKIP,PAPOLA,LINC02299,LINC00618,LINC02304,LINC02312,LINC01550,C14orf177,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,SLC25A29,RN7SL523P,WARS,BEGAIN,DLK1,RTL1,MIR376A2,MEG9,LINC02285,WDR20,ZNF839,CINP,LINC02323,AMN,LBHD2,EXOC3L4,LINC00677,TNFAIP2,EIF5,TRMT61A,APOPT1,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,INF2,SIVA1,AKT1,CEP170B,AHNAK2,GPR132,JAG2,TEX22,MTA1,TEDC1,TMEM121,IGHG1,IGHD,FAM30A,ADAM6,LINC00221,IGHV3-62,IGHV3-72,LINC02309,LINC02296,GALC,KCNK10,PTPN21,ZC3H14,EML5,TTC8,EFCAB11,NRDE2,TTC7B,RPS6KA5,DGLUCY,CCDC88C,PPP4R3A,CATSPERB,FBLN5,TRIP11,CPSF2,SLC24A4,RIN3,GOLGA5,CHGA,ITPK1,UNC79,IFI27,PPP4R4,SERPINA12,ADIPOR1P2,DICER1-AS1,CLMN,C14orf132,BDKRB2,ATG2B,VRK1,LINC02291,BCL11B,CCNK,EML1,EVL,YY1,WDR25,MEG3,MEG8,PPP2R5C,DYNC1H1,HSP90AA1,MOK,TECPR2,RCOR1,TRAF3,CDC42BPB,MARK3,KLC1,TDRD9,TMEM179,ADSSL1,CLBA1,BRF1,BTBD6,PACS2,IGHG2,LINC02328,LINC01146,FOXN3,KCNK13,BTBD7,SYNE3,AK7,LINC02325,LINC02320,PPP1R13B,LINC00523
munnich_19_ASD_discovery_cases-case28
FISH
De novo
SHLD2P2,RNU6-835P,GPR65,RNU4-22P,RNU4-92P,MPPE1P1,CAP2P1,FOXN3-AS1,FOXN3-AS2,RN7SKP107,RN7SKP255,CHORDC2P,RAB42P1,GLRXP2,RPL21P11,LINC02317,LINC02321,RNU7-30P,SNORA11B,POLR3GP1,NANOGP7,NDUFB1,RNU6-366P,LINC02287,ITPK1-AS1,MOAP1,TMEM251,GON7,COX8C,RNU6-1258P,MIR4506,IFI27L2,SERPINA2,SERPINA11,SERPINA13P,RPSAP4,GSC,RPL15P2,MIR3173,SNHG10,SCARNA13,LINC02318,TCL1B,TCL1A,BDKRB1,RNU2-33P,PEBP1P1,RPL23AP10,RN7SKP108,LINC02295,RN7SL714P,RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,MIR6764,MIR345,SLC25A47,RN7SKP92,MIR2392,MIR770,MIR493,MIR337,MIR665,MIR431,MIR433,MIR127,MIR432,MIR136,SNORD112,MIR370,SNORD113-1,SNORD113-2,SNORD113-3,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-8,SNORD113-9,SNORD114-1,SNORD114-2,SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-9,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MIR379,MIR411,MIR299,MIR380,MIR1197,MIR323A,MIR758,MIR329-1,MIR329-2,MIR494,MIR1193,MIR543,MIR495,MIR376C,MIR654,MIR376B,MIR376A1,MIR300,MIR1185-1,MIR1185-2,MIR381HG,MIR381,MIR487B,MIR539,MIR889,MIR544A,MIR655,MIR487A,MIR382,MIR134,MIR668,MIR485,MIR323B,MIR154,MIR496,MIR377,MIR541,MIR409,MIR412,MIR369,MIR410,MIR656,LINC00524,LINC02314,DIO3OS,MIR1247,DIO3,LINC00239,RNU6-790P,RN7SL472P,RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,RNU6-1316P,RPL13P6,NDUFB4P11,RPL21P12,GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,CEND1P1,C14orf180,LINC02280,MIR4710,ZBTB42,LINC00638,RPS26P49,RPS2P4,PLD4,CDCA4,LINC02298,MIR6765,NUDT14,RPS20P33,CRIP2,CRIP1,ATP5MC1P1,ELK2BP,IGHA2,IGHE,IGHG4,MIR8071-1,MIR8071-2,IGHGP,ELK2AP,IGHA1,IGHEP1,IGHG3,IGHM,MIR4539,MIR4507,MIR4538,MIR4537,IGHJ6,IGHJ3P,IGHJ5,IGHJ4,IGHJ3,IGHJ2P,IGHJ2,IGHJ1,IGHD7-27,IGHJ1P,IGHD1-26,IGHD6-25,IGHD5-24,IGHD4-23,IGHD3-22,IGHD2-21,IGHD1-20,IGHD6-19,IGHD5-18,IGHD4-17,IGHD3-16,IGHD2-15,IGHD1-14,IGHD6-13,IGHD5-12,IGHD4-11,IGHD3-10,IGHD3-9,IGHD2-8,IGHD1-7,IGHD6-6,IGHD5-5,IGHD4-4,IGHD3-3,IGHD2-2,IGHD1-1,IGHV6-1,IGHVII-1-1,IGHV1-2,IGHVIII-2-1,IGHV1-3,IGHV4-4,IGHV7-4-1,IGHV2-5,IGHVIII-5-1,IGHVIII-5-2,IGHV3-6,IGHV3-7,IGHV3-64D,IGHV5-10-1,IGHV3-11,IGHVIII-11-1,IGHV1-12,IGHV3-13,IGHVIII-13-1,IGHV1-14,IGHV3-15,IGHVII-15-1,IGHV3-16,IGHVIII-16-1,IGHV1-17,SLC20A1P2,IGHV1-18,IGHV3-19,IGHV3-20,IGHV3-21,IGHV3-22,IGHVII-22-1,IGHVIII-22-2,IGHV3-23,IGHV1-24,HOMER2P2,LINC00226,IGHV3-25,IGHVIII-25-1,IGHV2-26,IGHVIII-26-1,IGHVII-26-2,IGHV7-27,IGHV4-28,IGHVII-28-1,IGHV3-32,IGHV3-30,IGHVII-30-1,IGHV3-30-2,IGHV4-31,IGHVII-30-21,IGHV3-29,IGHV3-33,IGHVII-33-1,IGHV3-33-2,IGHV4-34,IGHV7-34-1,IGHV3-35,IGHV3-36,IGHV3-37,IGHV3-38,IGHVIII-38-1,IGHV4-39,IGHV7-40,IGHVII-40-1,IGHV3-41,HOMER2P1,IGHV3-42,IGHV3-43,IGHVII-43-1,IGHVIII-44,IGHVIV-44-1,IGHVII-44-2,IGHV1-45,IGHV1-46,IGHVII-46-1,IGHV3-47,IGHVIII-47-1,IGHV3-48,IGHV3-49,IGHVII-49-1,IGHV3-50,IGHV5-51,IGHVII-51-2,IGHV3-52,IGHV3-53,IGHVII-53-1,IGHV3-54,IGHV4-55,IGHV7-56,IGHV3-57,IGHV1-58,IGHV4-59,IGHV3-60,RNA5SP389,IGHVII-60-1,IGHV4-61,IGHVII-62-1,IGHV3-63,IGHV3-64,IGHV3-65,IGHVII-65-1,IGHV3-66,IGHV1-67,SLC20A1P1,IGHVII-67-1,IGHVIII-67-2,IGHVIII-67-3,IGHVIII-67-4,IGHV1-68,IGHV1-69,IGHV2-70D,IGHV3-69-1,IGHV1-69-2,IGHV1-69D,IGHV2-70,IGHV3-71,IGHV3-73,IGHV3-74,IGHVII-74-1,IGHV3-75,IGHV3-76,IGHVIII-76-1,LINC01147,TDP1,PSMC1,CALM1,LINC00642,GPR68,TC2N,ATXN3,LGMN,UBR7,PRIMA1,FAM181A-AS1,FAM181A,ASB2,CCDC197,OTUB2,DDX24,IFI27L1,SERPINA10,SERPINA6,SERPINA1,SERPINA9,SERPINA5,SERPINA4,SERPINA3,LINC02279,DICER1,LINC02292,GLRX5,TCL6,TUNAR,CKS1BP1,GSKIP,PAPOLA,LINC02299,LINC00618,LINC02304,LINC02312,LINC01550,C14orf177,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,SLC25A29,RN7SL523P,BEGAIN,DLK1,RTL1,MIR376A2,MEG9,LINC02285,WDR20,ZNF839,CINP,LINC02323,AMN,LBHD2,EXOC3L4,LINC00677,TNFAIP2,EIF5,TRMT61A,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,LINC02691,INF2,SIVA1,AKT1,CEP170B,AHNAK2,GPR132,JAG2,TEX22,MTA1,TEDC1,TMEM121,IGHG1,IGHD,FAM30A,ADAM6,LINC00221,IGHV3-62,IGHV3-72,GALC,KCNK10,ZC3H14,TTC8,EFCAB11,NRDE2,TTC7B,RPS6KA5,DGLUCY,CCDC88C,PPP4R3A,CATSPERB,FBLN5,TRIP11,CPSF2,SLC24A4,RIN3,GOLGA5,CHGA,ITPK1,UNC79,IFI27,PPP4R4,SERPINA12,ADIPOR1P2,DICER1-AS1,CLMN,C14orf132,BDKRB2,ATG2B,VRK1,LINC02291,BCL11B,CCNK,EML1,EVL,YY1,WDR25,MEG3,MEG8,PPP2R5C,DYNC1H1,HSP90AA1,MOK,TECPR2,RCOR1,TRAF3,CDC42BPB,MARK3,KLC1,TDRD9,TMEM179,CLBA1,BRF1,BTBD6,PACS2,IGHG2,LINC01146,FOXN3,KCNK13,BTBD7,SYNE3,AK7,LINC02325,LINC02320,PPP1R13B,LINC00523
Controls
No Control Data Available
No Animal Model Data Available