9p22.3-q12CNV Type: N/A
Largest CNV size: 52044366 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
De novo CNV identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA
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
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
52044366
NA
NA
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
52044366
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_12_ASD/DD/ID_discovery_cases-case40242
NA
F
Developmental delay
NA
NA
14210804
67549861
53339058
GRCh38
NA
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_12_ASD/DD/ID_discovery_cases-case40242
FISH, aCGH, or confirmation by inheritance
De novo
Unknown
Unknown
CDCA4P1,CER1,RNU6-1260P,LDHAP4,RNU6-559P,RPL7P33,RNU6-319P,RN7SL98P,FTH1P12,RNU6-246P,HMGN2P16,RNU6-14P,BNC2-AS1,LSM1P1,RN7SL720P,RPS29P33,SAMM50P1,PABPC1P11,MIR3152,RN7SKP258,RAP1BP1,RRAGA,SCARNA8,RNU6-264P,RPS6,NDUFA5P3,C11orf98P1,MIR4473,RNU4-26P,MIR4474,FOCAD-AS1,MIR491,SNORA30B,IFNNP1,IFNB1,IFNWP4,IFNW1,IFNA21,IFNWP15,IFNA4,IFNWP9,IFNA7,IFNA10,IFNWP18,IFNA17,IFNWP5,IFNA14,IFNA22P,IFNA5,IFNA20P,IFNA6,IFNA13,IFNA2,IFNA11P,IFNA12P,IFNA8,IFNWP2,IFNA1,IFNWP19,IFNE,MIR31,KHSRPP1,RN7SL151P,TUBB8P1,ERVFRD-3,CDKN2A-DT,UBA52P6,DMRTA1,CLIC4P1,SUMO2P2,NOP56P2,RMRPP5,RN7SKP120,TUSC1,FAM71BP1,RN7SL100P,IFT74-AS1,RNA5SP280,CTAGE12P,KCTD10P1,MIR876,MIR873,ME2P1,SLC4A1APP1,C2orf27AP2,RBMXP2,KRT18P66,KRT18P36,RPS26P2,FTLP4,HSPA8P17,SLC25A6P2,MTATP6P30,HMGB3P23,RNA5SP281,SLC25A5P8,TOPORS,DFFBP1,TAF1L,SNRPCP1,BOLA3P4,ASS1P12,TCEA1P4,LAGE3P1,RNU4ATAC15P,AQP3,MIR6851,SNX18P7,PRSS3P4,TRBV20OR9-2,ANXA2P2,TRBV21OR9-2,TRBV22OR9-2,TRBV23OR9-2,TRBV24OR9-2,TRBV25OR9-2,PTENP1,TRBV26OR9-2,TRBV29OR9-2,RNU4ATAC11P,SNORD121B,SNORD121A,OSTCP8,RN7SKP114,TUBB4BP2,RNA5SP282,RNU2-50P,SERPINH1P1,RN7SKP24,RPP25L,ARID3C,GALT,CCL27,CCL19,CCL21,FAM205A,FAM205C,GLULP4,YWHAZP6,DNAJB5-DT,SYF2P2,RN7SL338P,STOML2,ZFAND6P1,RPL36AP33,FAM166B,RPS29P17,TESK1,MIR4667,SIT1,RMRP,CCDC107,RN7SL22P,CA9,MIR6852,MIR6853,GBA2,MSMP,SPAG8,HINT2,FAM221B,OR13E1P,OR13J1,NDUFA5P4,HRCT1,PGAM1P2,OR2S2,YBX1P10,OR13C6P,OR13C7,OR2AM1P,CCIN,RNU4-53P,HMGB3P24,MIR4475,MIR4540,MIR4476,LINC01400,EBLN3P,RNU6-677P,LINC01627,GRHPR,CHCHD4P3,KCTD9P3,RAB1C,RN7SKP171,PAICSP1,TMX2P1,RNU7-124P,ALDH1B1,TCEA1P3,GAS2L1P1,VN1R48P,FAM220BP,FAM201A,YWHABP1,RNU6-765P,RBM17P1,RN7SL640P,SPATA31A1,FAM74A1,FKBP4P2,SDR42E1P1,ATP5F1AP8,RAB28P1,RBPJP5,RN7SL763P,RPL7AP49,C2orf27AP3,RNU6-1269P,SNX18P8,FAM95B1,CNN2P2,GXYLT1P3,IGKV1OR9-2,RNU6-156P,MIR1299,FOXD4L6,MIR4477A,RNA5SP530,CDK2AP2P1,MYO5BP1,RN7SL565P,RBM17P3,RN7SL343P,FAM74A7,SDR42E1P2,ATP5F1AP1,RAB28P3,RBPJP6,FGF7P5,FGF7P4,ADGRF5P2,MEP1AP4,RNU6-599P,SNX18P5,CYP4F60P,CNN2P4,RN7SL462P,RN7SL722P,FAM27C,FAM242E,RN7SL544P,FGF7P7,CNTNAP3P5,RBPJP7,RAB28P2,ATP5F1AP7,SDR42E1P3,FKBP4P7,LINC01410,RNA5SP283,PTGER4P2,CDK2AP2P2,MYO5BP2,ADGRF5P1,FGF7P8,BMS1P9,MYO5BP3,CDK2AP2P3,PTGER4P3,RNA5SP284,DUX4L50,MIR4477B,RNU6-1193P,SNX18P9,CYP4F25P,CNN2P3,GXYLT1P6,BMS1P11,IGKV1OR-2,BNIP3P4,RNU6-1293P,IGKV1OR9-1,FOXD4L5,FOXD4L4,IGKV1OR-3,SNX18P4,RNU6-538P,RBPJP2,RAB28P4,ATP5F1AP10,SDR42E1P4,FKBP4P8,FAM74A3,SPATA31A3,RN7SL422P,RBM17P2,SNAPC3,HAUS6,ACER2,MAP1LC3BP1,HACD4,IFNA16,KLHL9,CDKN2A,CDKN2B,IZUMO3,LINC01241,PLAA,EQTN,C9orf72,LINC01243,MTCO3P30,ACO1,SMIM27,NDUFB6,TMEM215,APTX,SMU1,B4GALT1-AS1,SPINK4,BAG1,CHMP5,AQP7,NOL6,SUGT1P1,CYP4F26P,LINC01251,PRSS3,UBE2R2,DCAF12,KIF24,MYORG,C9orf24,FAM219A,ENHO,CNTFR,CNTFR-AS1,DCTN3,SIGMAR1,IL11RA,FAM205BP,PHF24,C9orf131,VCP,FANCG,PIGO,FAM214B,ATP8B5P,CD72,ARHGEF39,TPM2,TLN1,CREB3,RGP1,NPR2,TMEM8B,OR2S1P,GLIPR2,CLTA,GNE,MELK,ZBTB5,FBXO10,TOMM5,FRMPD1,TRMT10B,EXOSC3,DCAF10,IGFBPL1,ARMC8P1,FAM95C,SNX18P3,ANKRD18A,FAM240B,VN2R3P,SKP1P3,GLIDR,MEP1AP1,AQP7P5,BMS1P14,SPATA31A6,FKBP4P6,GXYLT1P5,SPATA31A5,FAM74A6,SPATA31A7,FAM242D,CNTNAP3P1,AQP7P4,AQP7P1,FRG1JP,ANKRD20A4,AQP7P2,BMS1P12,CBWD4P,FRG1KP,CBWD5,BMS1P13,AQP7P3,GXYLT1P4,ANKRD20A3,ZNF658,NFIB,FREM1,CLCN3P1,TTC39B,PSIP1,C9orf92,CNTLN,SH3GL2,PLIN2,DENND4C,SLC24A2,MLLT3,MIR31HG,MTAP,LINC01239,ELAVL2,CAAP1,IFT74,LRRC19,TEK,MOB3B,IFNK,DNAJA1,B4GALT1,NFX1,PTENP1-AS,UBE2R2-AS1,UBAP2,UBAP1,NUDT2,DNAI1,DNAJB5,UNC13B,RUSC2,SPAAR,RECK,RNF38,PAX5,ZCCHC7,POLR1E,SLC25A51,SHB,CNTNAP3,ZNF658B,ANKRD20A2,FRG1HP,PGM5P2,CBWD6,FAM242F,ANKRD20A7P,FAM74A4,CNTNAP3C,FGF7P6,LINC01189,BMS1P10,ZDHHC21,CCDC171,ADAMTSL1,SAXO1,FOCAD,CDKN2B-AS1,LINC00032,LINGO2,LINC01242,DDX58,FGF7P3,BNC2,ANKRD18B,CNTNAP3B,CNTNAP3P2
Controls
No Control Data Available
No Animal Model Data Available