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nstd201 (Favilla et al. 2021)

Organism:
Human
Study Type:
Case-Set
Submitter:
Bianca Favilla
Description:
Our study characterized the clinical impact of unbalanced X-autosome translocations. The SVs reported herein were SVs identified in three patients with unbalanced translocations, whose clinical features are related to the pathogenicity of the SVs and also the spread of X-chromosome inactivation into autosomal regions. See Variant Summary counts for nstd201 in dbVar Variant Summary.
Publication(s):
Favilla et al. 2021

Detailed Information: Download 4 Variant Regions, Download 4 Variant Calls, 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_000013.11Chr1311RemappedNC_000013.11
NC_000023.11ChrX33RemappedNC_000023.11
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000013.10Chr1311SubmittedNC_000013.10
NC_000023.10ChrX33SubmittedNC_000023.10

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000013.10Chr13101000101000
NC_000023.10ChrX303000303000

Samplesets

Number of Samplesets: 1

Description:
The sampleset is composed of three subjects with different unbalanced X-autossome translocations
Size:
3
Organisms:
Homo sapiens
Sampleset Phenotype(s):
None reported
  • Download Samples as CSV file
  • Samples for sampleset 1
    Sample IDCell TypeSubject ID SexSubject AgeSubject Phenotype
    1Peripheral leukocytes1Male25 yearsNot reported
    2Peripheral leukocytes2Female12 yearsNot reported
    3Peripheral leukocytes3Female1 yearNot reported

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoverySNP arrayProbe signal intensityAffymetrix Genome-Wide Human SNP 6.0 Array1
    2DiscoveryOligo aCGHProbe signal intensityAgilent CGH array SurePrint G31
    3DiscoverySNP arrayProbe signal intensityAffymetrix CytoScan HD Array2

    Validations

    No validation data were submitted for this study.

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