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nstd178 (Karolak et al. 2020)

Organism:
Human
Study Type:
Case-Set
Submitter:
Pawel Stankiewicz
Description:
To elucidate the pathogenetics of Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. See Variant Summary counts for nstd178 in dbVar Variant Summary.
Publication(s):
Karolak et al. 2020

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

Variant Summary

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

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000016.10Chr1611RemappedNC_000016.10
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000016.9Chr1611SubmittedNC_000016.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000016.9Chr16110000110000

Samplesets

Number of Samplesets: 1

Size:
1
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1
    Sample IDSubject ID Subject Phenotype
    176.30176.30Not reported

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoveryOligo aCGHCurated1

    Validations

    No validation data were submitted for this study.

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