Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nstd236 (Maroilley et al. 2023)

Organism:: Human
Study Type:: Case-Control
Submitter:: Tatiana Maroilley
Description:: The COMBGENE project recruits children with rare genetic conditions for which WES failed to identify the genetic origin of the phenotypes observed. See Variant Summary counts for nstd236 in dbVar Variant Summary.

Links

Source: NCBI

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

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

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

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000016.10	Chr16	1	1	Remapped	NC_000016.10

Remapping summary:

			Variant Region remap status						Variant Call remap status
Sequence ID	Chr	Variant Regions on source	Perfect	Good	Pass	Fail	Mult	Variant Calls on source	Perfect	Good	Pass	Fail	Mult
NC_000016.9	Chr16	1	0	1	0	0	0	1	0	1	0	0	0

Samplesets

Number of Samplesets: 1

Name:: proband
Sampleset Type:: Case
Description:: affected individual
Size:: 1
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Tuberous Sclerosis
Sex:: Female

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	Sequencing	Paired-end mapping	1

Validations

No validation data were submitted for this study.

You are here: NCBI