Copy Number Variants / 13q12.11-q21.1

13q12.11-q21.1

Type
N/A
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

CNV identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)

Reports related to 13q12.11-q21.1 (1 Reports)
# Type Title Author, Year
1 Major Phenotypic heterogeneity of genomic disorders and rare copy-number variants. Girirajan S , et al. (2012)
Show all Case Details Show all Cohort Details

13q12.11-q21.1

Description:

Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.

Diagnosis:

Developmental delay with or without congenital malformations

Girirajan S , et al. (2012)
Cohort Size: 32587

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 37820576

Deletion: NA
Duplication: NA

Total CNV: 1
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Case Details Show all Cohort Details

girirajan_12_ASD/DD/ID_discovery_cases-case46609

Clinical Profile:

NA

Cognitive Profile:

NA

Girirajan S , et al. (2012)
Primary Diagnosis: Developmental delay

Age: NA

Gender: M
Primary Disorder Inheritence: -

Family Profile: Unknown
CNV Start: 18448674
CNV End: 56269250
CNV Size: 37820576
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: TUBA3C, TPTE2, MPHOSPH8, PSPC1, ZMYM5, ZMYM2, GJA3, GJB2, GJB6, CRYL1, IFT88, IL17D, N6AMT2, XPO4, LATS2, SAP18, SKA3, MRP63, ZDHHC20, EFHA1, FGF9, SGCG, SACS, TNFRSF19, MIPEP, C1QTNF9B-AS1, C1QTNF9B, SPATA13, C1QTNF9, PARP4, ATP12A, RNF17, CENPJ, PABPC3, FAM123A, MTMR6, NUPL1, ATP8A2, SHISA2, RNF6, CDK8, WASF3, GPR12, USP12, RPL21, RASL11A, GTF3A, MTIF3, LNX2, POLR1D, GSX1, PDX1, CDX2, PRHOXNB, FLT3, PAN3, FLT1, POMP, SLC46A3, MTUS2, SLC7A1, UBL3, KATNAL1, HMGB1, USPL1, ALOX5AP, MEDAG, TEX26, HSPH1, B3GALTL, RXFP2, FRY, ZAR1L, BRCA2, N4BP2L1, N4BP2L2, PDS5B, KL, STARD13, RFC3, NBEA, MAB21L1, DCLK1, SOHLH2, CCDC169-SOHLH2, CCDC169, SPG20, CCNA1, SERTM1, RFXAP, SMAD9, ALG5, EXOSC8, FAM48A, CSNK1A1L, POSTN, TRPC4, UFM1, FREM2, STOML3, PROSER1, NHLRC3, LHFP, COG6, FOXO1, MRPS31, SLC25A15, ELF1, WBP4, KBTBD6, KBTBD7, MTRF1, NAA16, RGCC, VWA8, DGKH, AKAP11, TNFSF11, FAM216B, EPSTI1, DNAJC15, ENOX1, CCDC122, LACC1, SERP2, TSC22D1, NUFIP1, KIAA1704, GTF2F2, KCTD4, TPT1, SLC25A30, COG3, FAM194B, SPERT, SIAH3, ZC3H13, CPB2, LCP1, KIAA0226L, LRCH1, ESD, HTR2A, SUCLA2, NUDT15, MED4, ITM2B, RB1, LPAR6, RCBTB2, CYSLTR2, FNDC3A, MLNR, CDADC1, CAB39L, SETDB2, PHF11, RCBTB1, ARL11, EBPL, KPNA3, SPRYD7, TRIM13, KCNRG, DLEU7, RNASEH2B, FAM124A, SERPINE3, INTS6, WDFY2, DHRS12, CCDC70, ATP7B, ALG11, UTP14C, NEK5, NEK3, THSD1, VPS36, CKAP2, HNRNPA1L2, SUGT1, LECT1, PCDH8, OLFM4
Show all Control Details Show all Cohort Details

13q12.11-q21.1

Description:

Persons found to have no overt neurological disorders during screening for other studies

Diagnosis:

Control

Girirajan S , et al. (2012)
Cohort Size: 8329

Age Min: -
Age Max: -
Average: -

Male: 100
Female: -
Unknown: -
CNV Size: 37820576

Deletion: NA
Duplication: NA

Total CNV: NA
CNV Start: -
CNV End: -
Genome Build: -
Validation Description: -
Primary Disorder Inheritence: -
Inheritance: -
Family Profile: -
Gene Content: -
Show all Control Details Show all Cohort Details

No control individuals reported.

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