Copy Number Variants / 13q31.1-q34

13q31.1-q34

Type
Deletion-Duplication
Average Length
33033818
Range
81202719-115092648
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
2 (2 case / 0 control)
Summary

CNVs within this region were found 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).

Reports related to 13q31.1-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

13q31.1-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: 34010030

Deletion: 1
Duplication: 1

Total CNV: 2
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-ISCA00004491

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: 80628584
CNV End: 114327173
CNV Size: 34010030
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: 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, 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, 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, GPC6, HS6ST3, STK24, CLYBL, ITGBL1, FGF14, ARHGEF7, LINC01070, CUL4A, UPF3A, GPC5, TMTC4, MYO16

kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004502

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: 82581008
CNV End: 114327173
CNV Size: 32057606
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: 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, 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, 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, GPC6, HS6ST3, STK24, CLYBL, ITGBL1, FGF14, ARHGEF7, LINC01070, CUL4A, UPF3A, GPC5, TMTC4, MYO16
Show all Control Details Show all Cohort Details

13q31.1-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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