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nstd153 (Szafranski et al. 2018)

Organism:
Human
Study Type:
Case-Set
Submitter:
Pawel Stankiewicz
Description:
This study concerns analysis of genomic instability hotspot at 16q24.1 using array CGH, long-range PCR, DNA sequencing and bioinformatics approaches. See Variant Summary counts for nstd153 in dbVar Variant Summary.
Publication(s):
Szafranski et al. 2018

Detailed Information: Download 8 Variant Regions, Download 8 Variant Calls, 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_000016.10Chr1688RemappedNC_000016.10
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000016.9Chr1688SubmittedNC_000016.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000016.9Chr16880000880000

Samplesets

Number of Samplesets: 1

Size:
8
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1
    Sample IDSubject ID Subject Phenotype
    54.3054.30Not reported
    147.30147.30Not reported
    153.30153.30Not reported
    155.30155.30Not reported
    158.30158.30Not reported
    165.30165.30Not reported
    177.30177.30Not reported
    179.30179.30Not reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoveryOligo aCGHProbe signal intensityAgilent0
    2DiscoveryPCRManual observation0
    3DiscoverySequencingSequence alignment0
    4DiscoveryMerging of experiments 1,2,3Merging of experiments 1,2,3See merged experiments8

    Validations

    No validation data were submitted for this study.

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