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nstd28 (Zhang et al. 2009)

Organism:
Human
Study Type:
Case-Set
Submitter:
Nick Beckloff
Description:
We employed a CGH based method to interrogate intermediate structural variation in 6 individuals of diverse geographic ancestry. See Variant Summary counts for nstd28 in dbVar Variant Summary.
Publication(s):
Zhang et al. 2009

Detailed Information: Download 6 Variant Regions, Download 6 Variant Calls, 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_000009.12Chr966RemappedNC_000009.12
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000009.11Chr966RemappedNC_000009.11
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000009.10Chr966SubmittedNC_000009.10

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000009.10Chr9640200640200
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000009.10Chr9660000660000

Samplesets

Number of Samplesets: 1

Description:
Patients with current sinopulmonary and cutaneous viral infections
Size:
6
Organisms:
Homo sapiens
Sampleset Phenotype(s):
Immunologic Deficiency Syndromes
  • Download Samples as CSV file
    • Samples for sampleset 1
    Sample IDCell TypeSubject ID SexEthnicitySubject Phenotype
    5-1Whole blood5-1FemaleCaucasianImmunologic Deficiency Syndromes
    6-1Whole blood6-1MaleCaucasianImmunologic Deficiency Syndromes
    2-1Whole blood2-1MaleLebaneseImmunologic Deficiency Syndromes
    1-1Whole blood1-1FemaleYemeniImmunologic Deficiency Syndromes
    3-1Whole blood3-1FemaleCaucasianImmunologic Deficiency Syndromes
    4-1Whole blood4-1MaleCaucasianImmunologic Deficiency Syndromes

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoveryOligo aCGHProbe signal intensityGPL62646
    2ValidationPCRManual observation2
    3ValidationWesternManual observation4

    Validations

    Experiment IDMethodAnalysisNumber of Variant Calls Validated
    2PCRManual observation2
    3WesternManual observation4
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