Copy Number Variants / 13q21.31-q31.3

13q21.31-q31.3

Type
Deletion
Average Length
52542962
Range
62534979-115077941
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

A deletion within this region was identified in a case with multiple congenital anomalies from a cohort of 57,365 individuals with a predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA) (Nguyen et al., 2013).

Reports related to 13q21.31-q31.3 (1 Reports)
# Type Title Author, Year
1 Major Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders. Nguyen LS , et al. (2013)
Show all Case Details Show all Cohort Details

13q21.31-q31.3

Description:

Patients from five databases: The Developmental Gene Anatomy Project at Harvard Medical School (DGAP, n=200); The Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP, n=120); The National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS, n=45); Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database (n=45,744); and DECIPHER

Diagnosis:

Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD

Nguyen LS , et al. (2013)
Cohort Size: 57365

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 52542962

Deletion: 1
Duplication: 0

Total CNV: 1
Discovery Method:

aCGH (n=45,744 from Signature Genomic Labs)

Validation Method:

FISH

Platform: SignatureChip BACs aCGH or SignatureChip Oligo whole-genome microarray (n=45,744)
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Case Details Show all Cohort Details

nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC33430

Clinical Profile:

Database: Signature. Indication for study: Multiple Congenital Anomalies

Cognitive Profile:

-

Nguyen LS , et al. (2013)
Primary Diagnosis: MCA

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 61960846
CNV End: 114312466
CNV Size: 52542962
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: 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, 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, 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, SCEL, RNF219, GPC6, HS6ST3, STK24, CLYBL, ITGBL1, FGF14, ARHGEF7, LINC01070, CUL4A, UPF3A, GPC5, TMTC4, MYO16, PCDH9
Show all Control Details Show all Cohort Details

13q21.31-q31.3

Description:

Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.

Diagnosis:

Control

Nguyen LS , et al. (2013)
Cohort Size: 20474

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: N/A

Deletion: N/A
Duplication: N/A

Total CNV: N/A
Discovery Method:

N/A

Validation Method:

N/A

Platform: N/A
Software: -
Algorithm: -
Geographical Ancestry: N/A
Show all Control Details Show all Cohort Details

No control individuals reported.

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