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nstd234 (Chandrasekhar et al. 2023)

Organism:
Human
Study Type:
Case-Set
Submitter:
Illumina, Inc.
Description:
~50Mb inversion in DMD in an affected individual. See Variant Summary counts for nstd234 in dbVar Variant Summary.

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

Variant Summary

Assembly used for analysis:
Remapped: GRCh38 (hg38)
Submitted: GRCh37 (hg19)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000023.11ChrX11RemappedNC_000023.11
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000023.10ChrX11SubmittedNC_000023.10

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000023.10ChrX101000101000

Samplesets

Number of Samplesets: 1

Sampleset Type:
Case
Size:
1
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
    • Samples for sampleset 1
    Sample IDSubject ID Subject Phenotype
    DMD1DMD1Not reported

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoveryKaryotypingManual observation1

    Validations

    No validation data were submitted for this study.

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