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dbVar

Database of genomic structural variation

nstd243 (Alharbi et al. 2024)

Organism:: Human
Study Type:: Case-Set
Submitter:: Heba Shawky
Description:: Population study of Saudi children with global developmental delay, carrying potentially pathogenic variants of NR4A2 gene. See Variant Summary counts for nstd243 in dbVar Variant Summary.
Project:: PRJNA1145139

Links

Source: NCBI

Detailed Information: Download 1 Variant Region, Download 7 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Submitted: GRCh38 (hg38)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000002.12	Chr2	1	7	Submitted	NC_000002.12

Samplesets

Number of Samplesets: 2

Sampleset ID:: 1
Name:: NWH_KSA_1
Sampleset Type:: Case
Description:: Saudi children with global developmental delay
Size:: 30
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Global developmental delay
Sex:: Male

Sampleset ID:: 2
Name:: NWH_KSA_2
Sampleset Type:: Case
Description:: Saudi children with global developmental delay
Size:: 9
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Global developmental delay
Sex:: Female

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	Sequencing	Sequence alignment	Agilent Whole Exome	7

Validations

No validation data were submitted for this study.

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