Copy Number Variants / 13q11-q21.1

13q11-q21.1

Type
Deletion
Average Length
37820576
Range
18448674-56269250
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

A mosaic 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 13q11-q21.1 (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

13q11-q21.1

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: 37820576

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-GC46609

Clinical Profile:

Database: Signature. Indication for study: Abnormal ultrasound, Abnormal karyotype, Cystic hygroma, Multiple fetal anomalies, mosaic der(13)

Cognitive Profile:

-

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

Age: N/A

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18445862
CNV End: 55695116
CNV Size: 37820576
Validation Description: FISH
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: BNIP3P7, LONRF2P2, LINC00388, FEM1AP4, LINC00387, TERF1P5, FAM207BP, GXYLT1P1, ZNF965P, CYP4F34P, SNX18P26, LINC00328-2P, RHOT1P3, RNU6-55P, RNU6-76P, SNX19P2, LINC00442, USP24P1, GTF2IP3, RNA5SP24, TUBA3C, MRPL3P1, LINC00421, FAM58DP, CYCSP32, ESRRAP1, CASC4P1, LINC00350, PSPC1-AS2, RN7SL166P, ST6GALNAC4P1, PPIAP28, LINC00556, GJB2, GJB6, MIR4499, SLC35E1P1, RNU2-7P, RANP8, PPIAP27, RPSAP54, LATS2-AS1, RNU4-9P, RPS12P23, IPPKP1, FAS-AS1, SAP18, MRPL57, LINC01046, GRK6P1, GAPDHP52, RNA5SP25, ZDHHC20-IT1, HIST1H2BPS3, FNTAP2, RNU6-59P, RPS7P10, LINC00424, NME1P1, MTND3P1, FTH1P7, DDX39AP1, RPL7AP73, IPMKP1, RFESDP1, BASP1P1, NUS1P2, RNY3P4, LINC00362, RNU6-58P, TATDN2P3, SDAD1P4, RPLP1P13, SACS-AS1, LINC00352, MTCO3P2, PCOTH, C1QTNF9B, ANKRD20A19P, IPO7P2, MIR2276, SPATA13-AS1, C1QTNF9-AS1, NUS1P3, LINC00566, CYCSP33, PSPC1P2, RNY1P7, RPL26P34, IRX1P1, ANKRD20A10P, SLC25A15P3, RPL34P27, LSP1P1, PABPC3, LINC00463, RPL23AP69, ELOBP1, RNU6-78P, RN7SL741P, RNY1P3, LINC00415, PRUNEP1, THAP12P6, RPS3AP44, GPR12, FGFR1OP2P1, RPS21P8, RPS20P32, LINC00412, RPL21, SNORD102, SNORA27, RASL11A, RNU6-70P, LINC01079, RNY1P1, RNU6-63P, NPM1P4, GSX1, RNU6-73P, PDX1, ATP5EP2, LINC00543, RN7SL272P, KATNBL1P1, CHCHD2P8, PAN3-AS1, EEF1A1P3, RNU6-82P, EIF4A1P7, RNU6-53P, CYP51A1P2, POM121L13P, GAPDHP69, MTUS2-AS1, TIMM8BP1, LINC00572, LINC00365, LINC00384, LINC00385, RNU6-64P, PRDX2P1, LINC00427, LINC01058, MFAP1P1, PTPN2P2, LINC00398, LINC00545, LINC01066, ANKRD26P4, LINC01073, IFIT1P1, ATP8A2P2, RNY1P4, TOMM22P3, LINC02344, RNU5A-4P, VDAC1P12, GAMTP2, SCAND3P1, PHBP13, MAB21L1, LINC00445, RNU6-71P, HIST1H2APS6, GAPDHP34, TCEAL4P1, ARL2BPP3, NDE1P2, RFXAP, SMAD9-IT1, LAMTOR3P1, RPL29P28, EIF4A1P5, EXOSC8, CSNK1A1L, RN7SKP1, RPS12P24, LINC01048, RNA5SP26, LINC00366, PRDX3P3, RNU6-56P, FREM2-AS1, PLA2G12AP2, NXT1P1, MIR4305, RNY4P14, CDKN2AIPNLP3, AZU1P1, LINC00332, RPL17P51, RNY3P9, RN7SKP2, RLIMP1, MIR320D1, MIR621, CYCSP34, RGS17P1, MIR3168, RN7SL597P, KBTBD6, CALM2P3, KBTBD7, MORF4L1P4, RAC1P3, RNU6-57P, TUBBP2, OR7E36P, OR7E155P, OR7E37P, MIR5006, RN7SL515P, RNU6-74P, RPS28P8, MAPK6PS3, CHCHD2P11, FHP1, FABP3P2, FAM216B, LINC00428, ZDHHC4P1, LINC00400, 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, LINC00349, CNN2P12, ANKRD20A9P, LINC00408, SMPD4P2, PSPC1P1, ANKRD26P3, SLC25A15P2, MRPS31P2, PSPC1, ZMYM5, KRR1P1, LINC01072, GJA3, EEF1AKMT1, CNOT4P1, HNRNPA1P30, LATS2, SKA3, ESRRAP2, MIPEPP3, LINC00539, ZDHHC20, FGF9, RN7SL766P, LINC00621, HMGA1P6, LINC00327, C1QTNF9, ATP12A, TPTE2P1, LINC01053, LINC01076, MTMR6, NUP58, SHISA2, ATP8A2P3, USP12-AS1, USP12-AS2, LINC02340, GTF3A, MTIF3, LNX2, PLUT, CDX2, URAD, POMP, MTUS2-AS2, SLC7A1, UBL3, LINC00544, LINC00426, UBE2L5P, USPL1, ALOX5AP, MEDAG, HSPH1, RXFP2, FRY-AS1, ZAR1L, N4BP2L1, STARD13-AS, CCDC169, SERTM1, SMAD9, SUPT20H, LINC00547, POSTN, HSPD1P9, UFM1, STOML3, PROSER1, NHLRC3, SLC25A15, WBP4, MTRF1, NAA16, RGCC, KARSP1, VWA8-AS1, AKAP11, LINC01050, DNAJC15, 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, ZNF962P, PHF2P2, CENPIP1, PARP4P2, TPTE2, MPHOSPH8, ZMYM2, CRYL1, IFT88, IL17D, XPO4, MICU2, LINC00540, SGCG, SACS, TNFRSF19, MIPEP, SPATA13, TPTE2P6, PARP4, RNF17, CENPJ, ATP8A2, CDK8, WASF3, WASF3-AS1, USP12, POLR1D, FLT3, PAN3, SLC46A3, LINC00297, KATNAL1, HMGB1, RBM22P2, TEX26-AS1, TEX26, WDR95P, B3GLCT, EEF1DP3, FRY, BRCA2, PDS5B, LINC00423, KL, STARD13, STARD13-IT1, RFC3, DCLK1, SOHLH2, CCDC169-SOHLH2, SPART, CCNA1, ALG5, LINC02334, LINC00571, LINC00437, ANKRD26P2, LHFPL6, COG6, LINC00598, FOXO1, MRPS31, ELF1, DGKH, LINC02341, TNFSF11, 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, RNF6, FLT1, MTUS2, N4BP2L2, N4BP2L2-IT2, LINC02343, LINC00457, NBEA, TRPC4, FREM2, TPTE2P5, SUGT1P3, EPSTI1, LCP1, ITM2B, CDADC1, INTS6, VPS36, AMER2, VWA8, DLEU1
Show all Control Details Show all Cohort Details

13q11-q21.1

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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