Copy Number Variants / 13q14.11-q34

13q14.11-q34

Type
Duplication
Average Length
70599687
Range
43793261-115092789
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
3 (3 case / 0 control)
Summary

Duplications within this region were found in three 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).

Reports related to 13q14.11-q34 (1 Reports)
# Type Title Author, Year
1 Major An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili... Kaminsky EB , et al. (2011)
Show all Case Details Show all Cohort Details

13q14.11-q34

Description:

Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome

Kaminsky EB , et al. (2011)
Cohort Size: 15749

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: 71419630

Deletion: 0
Duplication: 3

Total CNV: 3
Discovery Method:

aCGH

Validation Method:

FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA
Show all Case Details Show all Cohort Details

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001761

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 44733046
CNV End: 114327173
CNV Size: 69905568
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: LINC00330, RN7SL49P, RN7SKP3, RN7SKP4, KCTD4, SNORA31, RCN1P2, SLC25A30-AS1, PPIAP25, RNA5SP27, TIMM9P3, COX4I1P2, AKR1B1P4, RN7SL288P, RN7SKP5, FAM206BP, LINC00563, RNU2-6P, RNU6-68P, PPP1R2P4, OR7E101P, COX17P1, FKBP1AP3, HTR2A-AS1, GNG5P5, RN7SL700P, NAP1L4P3, RPL27AP8, LINC00562, SUCLA2-AS1, MED4-AS1, POLR2KP2, PPP1R26P1, PCNPP5, LINC01077, LINC00462, PSME2P2, RNU6-60P, RAD17P2, RNY3P2, COX7CP1, OGFOD1P1, MLNR, SNRPGP14, ARL11, RNY4P30, CTAGE10P, RNY4P9, MIR3613, MIR16-1, MIR15A, RPL18P10, ST13P4, RPL34P26, DLEU1-AS1, RNA5SP28, RNA5SP29, RPL5P31, PRELID3BP2, MIR5693, RPS4XP16, RN7SL320P, SNRPGP11, MIR4703, RNU6-65P, RNY1P6, RN7SL413P, ATP5F1P1, CCDC70, CTAGE3P, FABP5P2, UTP14C, LINC02333, RNY4P24, LINC00345, MIR759, PPIAP26, PCDH8, PCDH8P1, RN7SL618P, ZNF646P1, MIR1297, RPL13AP25, MIR5007, HNF4GP1, SPATA2P1, RN7SKP6, PRR20A, PRR20B, PRR20D, PRR20E, PRR20FP, MTCO2P3, SLC25A5P4, RPL31P53, RNA5SP30, RNY4P29, CTAGE16P, DNAJA1P1, HMGN2P39, POLR3KP1, RPP40P2, RNU7-88P, RN7SL375P, RNY4P28, LINC00434, TARDBPP2, RNA5SP31, RNY3P5, MIR3169, PCDH20, LINC02339, RAC1P8, LINC01074, RPL32P28, OR7E156P, RNU6-81P, PPP1R2P10, NFYAP1, LGMNP1, STARP1, HNRNPA3P5, LINC01052, MIR548X2, MIR4704, TRIM60P19, RNU7-87P, RPSAP53, LINC00364, BCRP9, NPM1P22, OR7E111P, ELL2P3, HNRNPA1P18, RPL37P21, RPS3AP52, RPL12P34, RN7SL761P, LINC02342, ZDHHC20P4, SNRPFP3, SRSF1P1, RNY3P10, RNU6-54P, MTCL1P1, RABEPKP1, H3F3BP1, RPL21P109, RPL35AP31, RPS10P21, RPL18AP17, RPL21P110, RNU6-80P, RNU6-79P, PSMD10P3, FABP5P1, RNU6-66P, RNU4-10P, RNY1P8, MARK2P12, RNY1P5, RPL21P108, RIOK3P1, RNU6-38P, SSR1P2, CTAGE11P, FAM204CP, LMO7DN-IT1, LINC00561, LINC01034, RN7SL571P, KCTD12, BTF3P11, RPL7P44, DHX9P1, MYCBP2-AS2, SCEL-AS1, RNY3P7, SPTLC1P5, MIR3665, EDNRB-AS1, RN7SL810P, LINC01069, SRGNP1, RNY3P3, RPL31P54, ELOCP23, POU4F1, RPL21P111, HSPD1P8, CCT5P2, NIPA2P5, BCAS2P3, RNA5SP33, LINC01068, LINC01038, SPRY2, RNU6-61P, HNRNPA1P31, PWWP2AP1, ARF4P4, LINC00377, DPPA3P3, LINC00564, RNU6-77P, HIGD1AP2, GYG1P2, RNU6-67P, SLITRK1, VENTXP2, UBE2D3P4, MTND4P1, MTND5P3, LINC00333, SLITRK6, MOB1AP1, DDX6P2, TXNL1P1, UBBP5, LIN28AP2, MIR4500, TET1P1, RPL29P29, LINC00433, LINC00560, GRPEL2P1, TRIM60P13, SP3P, LINC00353, LINC02336, PEX12P1, RNA5SP34, FAR1P1, KRT18P27, MIR622, RNU6-75P, BRK1P2, LINC00380, PPIAP23, MIR17HG, MIR17, MIR18A, MIR19A, MIR20A, MIR19B1, MIR92A1, RNU4ATAC3P, FABP5P4, MIR548AS, LINC00363, HNRNPA1P29, RNA5SP35, RNA5SP36, RN7SL585P, LINC00391, SOX21, BRD7P5, RPL21P112, LINC00557, RNU6-62P, RNY3P8, RNY4P27, MEMO1P5, MTND5P2, MTND6P18, MTCYBP3, HMGN1P24, RN7SL164P, MIR4501, AMMECR1LP1, HSP90AB6P, RN7SKP7, RNA5SP37, PSMA6P4, RPL7AP61, FTLP8, RNF113B, RN7SKP8, MIR3170, FARP1-AS1, STK24-AS1, NUS1P4, CYCSP35, CALM2P4, RN7SL60P, DOCK9-AS1, RPL7L1P12, RNU6-83P, DOCK9-AS2, RPS6P23, GAPDHP22, UBAC2-AS1, RN7SKP9, H2AFZP3, GPR18, MIR623, HMGB3P4, CCR12P, LINC01232, LINC01039, CFL1P8, MIR4306, CLYBL-AS2, CLYBL-AS1, ZIC5, ZIC2, LINC00554, NDUFA12P1, ASNSP3, RPL15P18, RPS26P47, COX5BP6, ARF4P3, RNU1-24P, HMGB3P7, MIR2681, LIPT1P1, RNY1P2, MIR4705, RPL39P29, FGF14-AS1, FGF14-AS2, LINC00555, METTL21C, TEX30, LINC01309, ATP6V1G1P7, RPL7P45, RNA5SP38, LINC00460, RPL35P9, ATP5G1P5, PPIAP24, SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, GPALPP1, TPT1, SLC25A30, LINC01055, SPERT, SIAH3, CPB2-AS1, CPB2, LINC01198, HTR2A, LINC00444, NUDT15, MED4, LINC00441, LPAR6, CYSLTR2, SETDB2, PHF11, KPNA3, SPRYD7, TRIM13, KCNRG, DLEU7-AS1, RNASEH2B-AS1, RNASEH2B, GUCY1B2, SERPINE3, ATP7B, ALG11, NEK3, MRPS31P5, THSD1, CKAP2, MRPS31P4, HNRNPA1L2, CNMD, OLFM4, LINC01065, LINC02335, LINC00374, DIAPH3-AS2, EIF4A1P6, LINC01442, LINC00358, LINC01075, LINC00459, SQSTM1P1, LINC00448, LINC00355, PCDH9-AS4, OR7E33P, LINC00550, LINC00383, PSMC1P13, MZT1, DIS3, KLF5, LINC00392, LINC00402, LINC00381, LINC00347, LINC01078, COMMD6, UCHL3, LMO7DN, ACOD1, CLN5, FBXL3, EDNRB, LINC00446, LINC00331, RBM26, RBM26-AS1, NDFIP2-AS1, NDFIP2, LINC00382, PTMAP5, LINC00430, LINC00397, LINC01047, LINC00440, LINC01040, RPL7L1P1, LINC00559, LINC01049, LINC00410, LINC00379, GPC5-AS2, GPC5-IT1, GPC5-AS1, GPC6-AS2, GPC6-AS1, DCT, TGDS, SOX21-AS1, CLDN10-AS1, DZIP1, DNAJC3-AS1, TULP3P1, LINC00456, RAP2A, IPO5, GPR183, LINC00449, TM9SF2, PCCA-AS1, LINC00411, CCDC168, LINC00283, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA-AS1, DAOA, LINC00343, EFNB2, LINC00551, LINC00443, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, NUFIP1, GTF2F2, TPT1-AS1, COG3, ERICH6B, ZC3H13, LRRC63, RUBCNL, LRCH1, ESD, SUCLA2, RB1, RCBTB2, FNDC3A, CAB39L, RCBTB1, EBPL, DLEU2, DLEU7, C13orf42, FAM124A, INTS6-AS1, WDFY2, DHRS12, NEK5, TPTE2P2, TPTE2P3, SUGT1, LINC00558, LINC00458, PRR20C, LINC02338, DIAPH3-AS1, TDRD3, LINC00378, LINC00376, LINC00395, PCDH9-AS1, PCDH9-AS2, PCDH9-AS3, KLHL1, ATXN8OS, LINC00348, DACH1, BORA, PIBF1, LINC00393, KLF12, TBC1D4, LMO7-AS1, LMO7, MYCBP2-AS1, MYCBP2, SLAIN1, RNF219-AS1, LINC00375, LINC00351, MIR4500HG, SLITRK5, GPR180, ABCC4, CLDN10, DNAJC3, UGGT2, OXGR1, MBNL2, FARP1, SLC15A1, DOCK9, UBAC2, PCCA, GGACT, NALCN-AS1, NALCN, FGF14-IT1, TPP2, METTL21EP, ARGLU1, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, LCP1, ITM2B, CDADC1, INTS6, VPS36, PCDH17, DIAPH3, SCEL, RNF219, GPC6, HS6ST3, STK24, CLYBL, ITGBL1, FGF14, ARHGEF7, LINC01070, CUL4A, UPF3A, DLEU1, GPC5, TMTC4, MYO16, PCDH9

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002798

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 44164751
CNV End: 114327173
CNV Size: 70473863
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: MIR8079, TSC22D1-AS1, SMARCE1P5, LINC00330, RN7SL49P, RN7SKP3, RN7SKP4, KCTD4, SNORA31, RCN1P2, SLC25A30-AS1, PPIAP25, RNA5SP27, TIMM9P3, COX4I1P2, AKR1B1P4, RN7SL288P, RN7SKP5, FAM206BP, LINC00563, RNU2-6P, RNU6-68P, PPP1R2P4, OR7E101P, COX17P1, FKBP1AP3, HTR2A-AS1, GNG5P5, RN7SL700P, NAP1L4P3, RPL27AP8, LINC00562, SUCLA2-AS1, MED4-AS1, POLR2KP2, PPP1R26P1, PCNPP5, LINC01077, LINC00462, PSME2P2, RNU6-60P, RAD17P2, RNY3P2, COX7CP1, OGFOD1P1, MLNR, SNRPGP14, ARL11, RNY4P30, CTAGE10P, RNY4P9, MIR3613, MIR16-1, MIR15A, RPL18P10, ST13P4, RPL34P26, DLEU1-AS1, RNA5SP28, RNA5SP29, RPL5P31, PRELID3BP2, MIR5693, RPS4XP16, RN7SL320P, SNRPGP11, MIR4703, RNU6-65P, RNY1P6, RN7SL413P, ATP5F1P1, CCDC70, CTAGE3P, FABP5P2, UTP14C, LINC02333, RNY4P24, LINC00345, MIR759, PPIAP26, PCDH8, PCDH8P1, RN7SL618P, ZNF646P1, MIR1297, RPL13AP25, MIR5007, HNF4GP1, SPATA2P1, RN7SKP6, PRR20A, PRR20B, PRR20D, PRR20E, PRR20FP, MTCO2P3, SLC25A5P4, RPL31P53, RNA5SP30, RNY4P29, CTAGE16P, DNAJA1P1, HMGN2P39, POLR3KP1, RPP40P2, RNU7-88P, RN7SL375P, RNY4P28, LINC00434, TARDBPP2, RNA5SP31, RNY3P5, MIR3169, PCDH20, LINC02339, RAC1P8, LINC01074, RPL32P28, OR7E156P, RNU6-81P, PPP1R2P10, NFYAP1, LGMNP1, STARP1, HNRNPA3P5, LINC01052, MIR548X2, MIR4704, TRIM60P19, RNU7-87P, RPSAP53, LINC00364, BCRP9, NPM1P22, OR7E111P, ELL2P3, HNRNPA1P18, RPL37P21, RPS3AP52, RPL12P34, RN7SL761P, LINC02342, ZDHHC20P4, SNRPFP3, SRSF1P1, RNY3P10, RNU6-54P, MTCL1P1, RABEPKP1, H3F3BP1, RPL21P109, RPL35AP31, RPS10P21, RPL18AP17, RPL21P110, RNU6-80P, RNU6-79P, PSMD10P3, FABP5P1, RNU6-66P, RNU4-10P, RNY1P8, MARK2P12, RNY1P5, RPL21P108, RIOK3P1, RNU6-38P, SSR1P2, CTAGE11P, FAM204CP, LMO7DN-IT1, LINC00561, LINC01034, RN7SL571P, KCTD12, BTF3P11, RPL7P44, DHX9P1, MYCBP2-AS2, SCEL-AS1, RNY3P7, SPTLC1P5, MIR3665, EDNRB-AS1, RN7SL810P, LINC01069, SRGNP1, RNY3P3, RPL31P54, ELOCP23, POU4F1, RPL21P111, HSPD1P8, CCT5P2, NIPA2P5, BCAS2P3, RNA5SP33, LINC01068, LINC01038, SPRY2, RNU6-61P, HNRNPA1P31, PWWP2AP1, ARF4P4, LINC00377, DPPA3P3, LINC00564, RNU6-77P, HIGD1AP2, GYG1P2, RNU6-67P, SLITRK1, VENTXP2, UBE2D3P4, MTND4P1, MTND5P3, LINC00333, SLITRK6, MOB1AP1, DDX6P2, TXNL1P1, UBBP5, LIN28AP2, MIR4500, TET1P1, RPL29P29, LINC00433, LINC00560, GRPEL2P1, TRIM60P13, SP3P, LINC00353, LINC02336, PEX12P1, RNA5SP34, FAR1P1, KRT18P27, MIR622, RNU6-75P, BRK1P2, LINC00380, PPIAP23, MIR17HG, MIR17, MIR18A, MIR19A, MIR20A, MIR19B1, MIR92A1, RNU4ATAC3P, FABP5P4, MIR548AS, LINC00363, HNRNPA1P29, RNA5SP35, RNA5SP36, RN7SL585P, LINC00391, SOX21, BRD7P5, RPL21P112, LINC00557, RNU6-62P, RNY3P8, RNY4P27, MEMO1P5, MTND5P2, MTND6P18, MTCYBP3, HMGN1P24, RN7SL164P, MIR4501, AMMECR1LP1, HSP90AB6P, RN7SKP7, RNA5SP37, PSMA6P4, RPL7AP61, FTLP8, RNF113B, RN7SKP8, MIR3170, FARP1-AS1, STK24-AS1, NUS1P4, CYCSP35, CALM2P4, RN7SL60P, DOCK9-AS1, RPL7L1P12, RNU6-83P, DOCK9-AS2, RPS6P23, GAPDHP22, UBAC2-AS1, RN7SKP9, H2AFZP3, GPR18, MIR623, HMGB3P4, CCR12P, LINC01232, LINC01039, CFL1P8, MIR4306, CLYBL-AS2, CLYBL-AS1, ZIC5, ZIC2, LINC00554, NDUFA12P1, ASNSP3, RPL15P18, RPS26P47, COX5BP6, ARF4P3, RNU1-24P, HMGB3P7, MIR2681, LIPT1P1, RNY1P2, MIR4705, RPL39P29, FGF14-AS1, FGF14-AS2, LINC00555, METTL21C, TEX30, LINC01309, ATP6V1G1P7, RPL7P45, RNA5SP38, LINC00460, RPL35P9, ATP5G1P5, PPIAP24, SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, SERP2, TUSC8, GPALPP1, TPT1, SLC25A30, LINC01055, SPERT, SIAH3, CPB2-AS1, CPB2, LINC01198, HTR2A, LINC00444, NUDT15, MED4, LINC00441, LPAR6, CYSLTR2, SETDB2, PHF11, KPNA3, SPRYD7, TRIM13, KCNRG, DLEU7-AS1, RNASEH2B-AS1, RNASEH2B, GUCY1B2, SERPINE3, ATP7B, ALG11, NEK3, MRPS31P5, THSD1, CKAP2, MRPS31P4, HNRNPA1L2, CNMD, OLFM4, LINC01065, LINC02335, LINC00374, DIAPH3-AS2, EIF4A1P6, LINC01442, LINC00358, LINC01075, LINC00459, SQSTM1P1, LINC00448, LINC00355, PCDH9-AS4, OR7E33P, LINC00550, LINC00383, PSMC1P13, MZT1, DIS3, KLF5, LINC00392, LINC00402, LINC00381, LINC00347, LINC01078, COMMD6, UCHL3, LMO7DN, ACOD1, CLN5, FBXL3, EDNRB, LINC00446, LINC00331, RBM26, RBM26-AS1, NDFIP2-AS1, NDFIP2, LINC00382, PTMAP5, LINC00430, LINC00397, LINC01047, LINC00440, LINC01040, RPL7L1P1, LINC00559, LINC01049, LINC00410, LINC00379, GPC5-AS2, GPC5-IT1, GPC5-AS1, GPC6-AS2, GPC6-AS1, DCT, TGDS, SOX21-AS1, CLDN10-AS1, DZIP1, DNAJC3-AS1, TULP3P1, LINC00456, RAP2A, IPO5, GPR183, LINC00449, TM9SF2, PCCA-AS1, LINC00411, CCDC168, LINC00283, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA-AS1, DAOA, LINC00343, EFNB2, LINC00551, LINC00443, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, SMIM2-AS1, TSC22D1, LINC00407, NUFIP1, GTF2F2, TPT1-AS1, COG3, ERICH6B, ZC3H13, LRRC63, RUBCNL, LRCH1, ESD, SUCLA2, RB1, RCBTB2, FNDC3A, CAB39L, RCBTB1, EBPL, DLEU2, DLEU7, C13orf42, FAM124A, INTS6-AS1, WDFY2, DHRS12, NEK5, TPTE2P2, TPTE2P3, SUGT1, LINC00558, LINC00458, PRR20C, LINC02338, DIAPH3-AS1, TDRD3, LINC00378, LINC00376, LINC00395, PCDH9-AS1, PCDH9-AS2, PCDH9-AS3, KLHL1, ATXN8OS, LINC00348, DACH1, BORA, PIBF1, LINC00393, KLF12, TBC1D4, LMO7-AS1, LMO7, MYCBP2-AS1, MYCBP2, SLAIN1, RNF219-AS1, LINC00375, LINC00351, MIR4500HG, SLITRK5, GPR180, ABCC4, CLDN10, DNAJC3, UGGT2, OXGR1, MBNL2, FARP1, SLC15A1, DOCK9, UBAC2, PCCA, GGACT, NALCN-AS1, NALCN, FGF14-IT1, TPP2, METTL21EP, ARGLU1, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, LCP1, ITM2B, CDADC1, INTS6, VPS36, PCDH17, DIAPH3, SCEL, RNF219, GPC6, HS6ST3, STK24, CLYBL, ITGBL1, FGF14, ARHGEF7, LINC01070, CUL4A, UPF3A, DLEU1, GPC5, TMTC4, MYO16, PCDH9

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003957

Clinical Profile:

Clinical profile NA

Cognitive Profile:

Cognitive profile NA

Kaminsky EB , et al. (2011)
Primary Diagnosis: Developmental delay/intellectual disability/ASD

Age: NA

Gender: NA
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 43219125
CNV End: 114327314
CNV Size: 71419630
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: RPL36P19, ENOX1-AS2, ENOX1-AS1, DGKZP1, MIR8079, TSC22D1-AS1, SMARCE1P5, LINC00330, RN7SL49P, RN7SKP3, RN7SKP4, KCTD4, SNORA31, RCN1P2, SLC25A30-AS1, PPIAP25, RNA5SP27, TIMM9P3, COX4I1P2, AKR1B1P4, RN7SL288P, RN7SKP5, FAM206BP, LINC00563, RNU2-6P, RNU6-68P, PPP1R2P4, OR7E101P, COX17P1, FKBP1AP3, HTR2A-AS1, GNG5P5, RN7SL700P, NAP1L4P3, RPL27AP8, LINC00562, SUCLA2-AS1, MED4-AS1, POLR2KP2, PPP1R26P1, PCNPP5, LINC01077, LINC00462, PSME2P2, RNU6-60P, RAD17P2, RNY3P2, COX7CP1, OGFOD1P1, MLNR, SNRPGP14, ARL11, RNY4P30, CTAGE10P, RNY4P9, MIR3613, MIR16-1, MIR15A, RPL18P10, ST13P4, RPL34P26, DLEU1-AS1, RNA5SP28, RNA5SP29, RPL5P31, PRELID3BP2, MIR5693, RPS4XP16, RN7SL320P, SNRPGP11, MIR4703, RNU6-65P, RNY1P6, RN7SL413P, ATP5F1P1, CCDC70, CTAGE3P, FABP5P2, UTP14C, LINC02333, RNY4P24, LINC00345, MIR759, PPIAP26, PCDH8, PCDH8P1, RN7SL618P, ZNF646P1, MIR1297, RPL13AP25, MIR5007, HNF4GP1, SPATA2P1, RN7SKP6, PRR20A, PRR20B, PRR20D, PRR20E, PRR20FP, MTCO2P3, SLC25A5P4, RPL31P53, RNA5SP30, RNY4P29, CTAGE16P, DNAJA1P1, HMGN2P39, POLR3KP1, RPP40P2, RNU7-88P, RN7SL375P, RNY4P28, LINC00434, TARDBPP2, RNA5SP31, RNY3P5, MIR3169, PCDH20, LINC02339, RAC1P8, LINC01074, RPL32P28, OR7E156P, RNU6-81P, PPP1R2P10, NFYAP1, LGMNP1, STARP1, HNRNPA3P5, LINC01052, MIR548X2, MIR4704, TRIM60P19, RNU7-87P, RPSAP53, LINC00364, BCRP9, NPM1P22, OR7E111P, ELL2P3, HNRNPA1P18, RPL37P21, RPS3AP52, RPL12P34, RN7SL761P, LINC02342, ZDHHC20P4, SNRPFP3, SRSF1P1, RNY3P10, RNU6-54P, MTCL1P1, RABEPKP1, H3F3BP1, RPL21P109, RPL35AP31, RPS10P21, RPL18AP17, RPL21P110, RNU6-80P, RNU6-79P, PSMD10P3, FABP5P1, RNU6-66P, RNU4-10P, RNY1P8, MARK2P12, RNY1P5, RPL21P108, RIOK3P1, RNU6-38P, SSR1P2, CTAGE11P, FAM204CP, LMO7DN-IT1, LINC00561, LINC01034, RN7SL571P, KCTD12, BTF3P11, RPL7P44, DHX9P1, MYCBP2-AS2, SCEL-AS1, RNY3P7, SPTLC1P5, MIR3665, EDNRB-AS1, RN7SL810P, LINC01069, SRGNP1, RNY3P3, RPL31P54, ELOCP23, POU4F1, RPL21P111, HSPD1P8, CCT5P2, NIPA2P5, BCAS2P3, RNA5SP33, LINC01068, LINC01038, SPRY2, RNU6-61P, HNRNPA1P31, PWWP2AP1, ARF4P4, LINC00377, DPPA3P3, LINC00564, RNU6-77P, HIGD1AP2, GYG1P2, RNU6-67P, SLITRK1, VENTXP2, UBE2D3P4, MTND4P1, MTND5P3, LINC00333, SLITRK6, MOB1AP1, DDX6P2, TXNL1P1, UBBP5, LIN28AP2, MIR4500, TET1P1, RPL29P29, LINC00433, LINC00560, GRPEL2P1, TRIM60P13, SP3P, LINC00353, LINC02336, PEX12P1, RNA5SP34, FAR1P1, KRT18P27, MIR622, RNU6-75P, BRK1P2, LINC00380, PPIAP23, MIR17HG, MIR17, MIR18A, MIR19A, MIR20A, MIR19B1, MIR92A1, RNU4ATAC3P, FABP5P4, MIR548AS, LINC00363, HNRNPA1P29, RNA5SP35, RNA5SP36, RN7SL585P, LINC00391, SOX21, BRD7P5, RPL21P112, LINC00557, RNU6-62P, RNY3P8, RNY4P27, MEMO1P5, MTND5P2, MTND6P18, MTCYBP3, HMGN1P24, RN7SL164P, MIR4501, AMMECR1LP1, HSP90AB6P, RN7SKP7, RNA5SP37, PSMA6P4, RPL7AP61, FTLP8, RNF113B, RN7SKP8, MIR3170, FARP1-AS1, STK24-AS1, NUS1P4, CYCSP35, CALM2P4, RN7SL60P, DOCK9-AS1, RPL7L1P12, RNU6-83P, DOCK9-AS2, RPS6P23, GAPDHP22, UBAC2-AS1, RN7SKP9, H2AFZP3, GPR18, MIR623, HMGB3P4, CCR12P, LINC01232, LINC01039, CFL1P8, MIR4306, CLYBL-AS2, CLYBL-AS1, ZIC5, ZIC2, LINC00554, NDUFA12P1, ASNSP3, RPL15P18, RPS26P47, COX5BP6, ARF4P3, RNU1-24P, HMGB3P7, MIR2681, LIPT1P1, RNY1P2, MIR4705, RPL39P29, FGF14-AS1, FGF14-AS2, LINC00555, METTL21C, TEX30, LINC01309, ATP6V1G1P7, RPL7P45, RNA5SP38, LINC00460, RPL35P9, ATP5G1P5, PPIAP24, SNORD31B, MIR1267, RNA5SP39, HCFC2P1, MYO16-AS2, LINC00370, LINC01067, LINC00399, LINC00676, RN7SKP10, LINC00396, RN7SL783P, MIR8073, COL4A2-AS1, RPL21P107, LINC00567, LINC00346, ANKRD10-IT1, PARP1P1, ARHGEF7-AS2, ARHGEF7-AS1, LINC00354, SNORD44, SOX1, LINC00404, LINC01043, F10-AS1, MIR8075, LDHBP1, RNU1-16P, LINC00552, GAS6-AS2, LINC00454, LINC00565, RASA3-IT1, MIR548AR, MIR4502, CLCP2, CHAMP1, CCDC122, LACC1, LINC00390, SMIM2, SMIM2-IT1, SERP2, TUSC8, GPALPP1, TPT1, SLC25A30, LINC01055, SPERT, SIAH3, CPB2-AS1, CPB2, LINC01198, HTR2A, LINC00444, NUDT15, MED4, LINC00441, LPAR6, CYSLTR2, SETDB2, PHF11, KPNA3, SPRYD7, TRIM13, KCNRG, DLEU7-AS1, RNASEH2B-AS1, RNASEH2B, GUCY1B2, SERPINE3, ATP7B, ALG11, NEK3, MRPS31P5, THSD1, CKAP2, MRPS31P4, HNRNPA1L2, CNMD, OLFM4, LINC01065, LINC02335, LINC00374, DIAPH3-AS2, EIF4A1P6, LINC01442, LINC00358, LINC01075, LINC00459, SQSTM1P1, LINC00448, LINC00355, PCDH9-AS4, OR7E33P, LINC00550, LINC00383, PSMC1P13, MZT1, DIS3, KLF5, LINC00392, LINC00402, LINC00381, LINC00347, LINC01078, COMMD6, UCHL3, LMO7DN, ACOD1, CLN5, FBXL3, EDNRB, LINC00446, LINC00331, RBM26, RBM26-AS1, NDFIP2-AS1, NDFIP2, LINC00382, PTMAP5, LINC00430, LINC00397, LINC01047, LINC00440, LINC01040, RPL7L1P1, LINC00559, LINC01049, LINC00410, LINC00379, GPC5-AS2, GPC5-IT1, GPC5-AS1, GPC6-AS2, GPC6-AS1, DCT, TGDS, SOX21-AS1, CLDN10-AS1, DZIP1, DNAJC3-AS1, TULP3P1, LINC00456, RAP2A, IPO5, GPR183, LINC00449, TM9SF2, PCCA-AS1, LINC00411, CCDC168, LINC00283, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA-AS1, DAOA, LINC00343, EFNB2, LINC00551, LINC00443, FAM155A-IT1, LIG4, ABHD13, IRS2, COL4A2-AS2, RAB20, CARS2, ING1, LINC00431, LINC00368, ARHGEF7-IT1, TEX29, LINC02337, SPACA7, TUBGCP3, ATP11AUN, ATP11A-AS1, MCF2L-AS1, F10, KARSP2, PROZ, PCID2, LAMP1, GRTP1, GRTP1-AS1, ADPRHL1, DCUN1D2, DCUN1D2-AS, ATP4B, GRK1, GAS6-AS1, GAS6, CDC16, ENOX1, LINC00284, SMIM2-AS1, TSC22D1, LINC00407, NUFIP1, GTF2F2, TPT1-AS1, COG3, ERICH6B, ZC3H13, LRRC63, RUBCNL, LRCH1, ESD, SUCLA2, RB1, RCBTB2, FNDC3A, CAB39L, RCBTB1, EBPL, DLEU2, DLEU7, C13orf42, FAM124A, INTS6-AS1, WDFY2, DHRS12, NEK5, TPTE2P2, TPTE2P3, SUGT1, LINC00558, LINC00458, PRR20C, LINC02338, DIAPH3-AS1, TDRD3, LINC00378, LINC00376, LINC00395, PCDH9-AS1, PCDH9-AS2, PCDH9-AS3, KLHL1, ATXN8OS, LINC00348, DACH1, BORA, PIBF1, LINC00393, KLF12, TBC1D4, LMO7-AS1, LMO7, MYCBP2-AS1, MYCBP2, SLAIN1, RNF219-AS1, LINC00375, LINC00351, MIR4500HG, SLITRK5, GPR180, ABCC4, CLDN10, DNAJC3, UGGT2, OXGR1, MBNL2, FARP1, SLC15A1, DOCK9, UBAC2, PCCA, GGACT, NALCN-AS1, NALCN, FGF14-IT1, TPP2, METTL21EP, ARGLU1, FAM155A, TNFSF13B, MYO16-AS1, COL4A1, COL4A2, NAXD, ANKRD10, LINC01044, ATP11A, MCF2L, F7, TMCO3, TFDP1, TMEM255B, LINC00452, RASA3, LCP1, ITM2B, CDADC1, INTS6, VPS36, PCDH17, DIAPH3, SCEL, RNF219, GPC6, HS6ST3, STK24, CLYBL, ITGBL1, FGF14, ARHGEF7, LINC01070, CUL4A, UPF3A, DLEU1, GPC5, TMTC4, MYO16, PCDH9
Show all Control Details Show all Cohort Details

13q14.11-q34

Description:

Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium

Diagnosis:

Controls

Kaminsky EB , et al. (2011)
Cohort Size: 10118

Age Min: -
Age Max: -
Average: -

Male: -
Female: -
Unknown: 100
CNV Size: NA

Deletion: NA
Duplication: NA

Total CNV: NA
Discovery Method:

aCGH

Validation Method:

-

Platform: Agilent 44K or 105K
Software: Feature Extraction & DNA Analytics
Algorithm: -
Geographical Ancestry: NA
Show all Control Details Show all Cohort Details

No control individuals reported.

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