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nstd59 (Lopez-Herrera et al. 2012)

Organism:
Human
Study Type:
Case-Set
Submitter:
Edward Gertz
Description:
Deleterious mutations in LRBA are associated with a novel syndrome of immune deficiency and autoimmunity. See Variant Summary counts for nstd59 in dbVar Variant Summary.
Publication(s):
Lopez-Herrera et al. 2012

Detailed Information: Download 1 Variant Region, Download 1 Variant Call, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000004.12Chr411RemappedNC_000004.12
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000004.11Chr411RemappedNC_000004.11
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000004.10Chr411SubmittedNC_000004.10

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000004.10Chr4110000110000
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000004.10Chr4110000110000

Samplesets

Number of Samplesets: 1

Size:
1
Organisms:
Homo sapiens
Sampleset Phenotype(s):
Common Variable Immunodeficiency
  • Download Samples as CSV file
    • Samples for sampleset 1
    Sample IDSubject ID Subject Phenotype
    11Common Variable Immunodeficiency

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoverySequencingSequence alignment1

    Validations

    No validation data were submitted for this study.

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