Copy Number Variants / 13q21.1-q34

13q21.1-q34

Type
N/A
Average Length
57990292
Range
56112951-114103243
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 male patient with developmental delay/intellectual disability (Girirajan et al., 2012)

Reports related to 13q21.1-q34 (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

13q21.1-q34

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: 57990292

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: 56112951
CNV End: 114103243
CNV Size: 57990292
Validation Description: FISH, aCGH, or confirmation by inheritance
Primary Disorder Inheritence: -
CNV Inheritance: Unknown
Family Profile: Unknown
Genome Build: hg18
Gene Content: PRR20A, PRR20B, PRR20E, PRR20D, PRR20C, PCDH17, DIAPH3, TDRD3, PCDH20, PCDH9, KLHL1, DACH1, MZT1, BORA, DIS3, PIBF1, KLF5, KLF12, TBC1D4, COMMD6, UCHL3, LMO7, C13orf45, KCTD12, IRG1, CLN5, FBXL3, MYCBP2, SCEL, SLAIN1, EDNRB, POU4F1, RNF219, RBM26, NDFIP2, SPRY2, SLITRK1, SLITRK6, SLITRK5, GPC5, GPC6, DCT, TGDS, GPR180, SOX21, ABCC4, CLDN10, DZIP1, DNAJC3, UGGT2, HS6ST3, OXGR1, MBNL2, RAP2A, IPO5, FARP1, RNF113B, STK24, SLC15A1, DOCK9, UBAC2, GPR18, GPR183, TM9SF2, CLYBL, ZIC5, ZIC2, PCCA, GGACT, TMTC4, NALCN, ITGBL1, FGF14, TPP2, METTL21C, CCDC168, TEX30, KDELC1, BIVM, BIVM-ERCC5, ERCC5, SLC10A2, DAOA, EFNB2, ARGLU1, FAM155A, LIG4, ABHD13, TNFSF13B, MYO16, IRS2, COL4A1, COL4A2, RAB20, CARKD, CARS2, ING1, ANKRD10, ARHGEF7, TEX29, SOX1, SPACA7, TUBGCP3, C13orf35, ATP11A, MCF2L, F7, F10, PROZ, PCID2, CUL4A, LAMP1, GRTP1, ADPRHL1, DCUN1D2, TMCO3, TFDP1, ATP4B, GRK1, GAS6, FAM70B, RASA3, CDC16, UPF3A, CHAMP1
Show all Control Details Show all Cohort Details

13q21.1-q34

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: 57990292

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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