Copy Number Variants / 13q12.3-q31.1

13q12.3-q31.1

Type
Duplication
Average Length
53291512
Range
30893050-84184561
Associated Human Genes
-
Associated Animal Models
-
Autism Reports
1
Populations
1 (1 case / 0 control)
Individuals
1 (1 case / 0 control)
Summary

Rare singleton duplication within this region was found in a case 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 13q12.3-q31.1 (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

13q12.3-q31.1

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: 53291512

Deletion: 0
Duplication: 1

Total CNV: 1
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-ISCA00002164

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: 30318913
CNV End: 83610426
CNV Size: 53291512
Validation Description: FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Primary Disorder Inheritence: -
CNV Inheritance: De novo
Family Profile: Unknown
Genome Build: GRCh38
Gene Content: 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, 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, 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, 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, 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, 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, N4BP2L2, N4BP2L2-IT2, LINC02343, LINC00457, NBEA, TRPC4, FREM2, TPTE2P5, SUGT1P3, EPSTI1, LCP1, ITM2B, CDADC1, INTS6, VPS36, PCDH17, DIAPH3, SCEL, RNF219, VWA8, DLEU1, PCDH9
Show all Control Details Show all Cohort Details

13q12.3-q31.1

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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