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nstd226 (Mei et al. 2022)

Organism:
Human
Study Type:
Collection
Submitter:
Lianni Mei
Description:
The children's blood samples were tested by Array-based Comparative Genomic Hybridization (array-CGH) to confirm whether there are copy number variations (CNV) in the genome.One child had a 64kb deletion in Xq27.3, including FMR1 gene. See Variant Summary counts for nstd226 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

Size:
1
Organisms:
Homo sapiens
Sampleset Phenotype(s):
autism; intellectual disability; long face; big ears
Sex:
Female
  • Download Samples as CSV file
    • Samples for sampleset 1
    Sample IDCell TypeSubject ID SexEthnicitySubject AgeSubject Phenotype
    CNV-1-FMR1whole bloodCNV-1-FMR1FemaleAsian5 yearsautism; intellectual disability; long face; big ears

    Experimental Details

    Experiment IDTypeMethodAnalysisNumber of Variant Calls
    1DiscoveryOligo aCGHProbe signal intensity1

    Validations

    No validation data were submitted for this study.

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