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dbVar

Database of genomic structural variation

nstd208 (Si et al. 2022)

Organism:: Human
Study Type:: Case-Set
Submitter:: Nuo Si
Description:: 22q11.2 deletions in patients with congenital microtia. See Variant Summary counts for nstd208 in dbVar Variant Summary.
Publication(s):: Si et al. 2022

Links

Source: NCBI

Detailed Information: Download 2 Variant Regions, Download 2 Variant Calls, 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_000022.11	Chr22	2	2	Remapped	NC_000022.11

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_000022.10	Chr22	2	0	0	2	0	0	2	0	0	2	0	0

Samplesets

Number of Samplesets: 1

Size:: 2
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	Sequencing	Read depth and paired-end mapping	1
2	Discovery	Sequencing	Read depth	1

Validations

No validation data were submitted for this study.

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