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dbVar

Database of genomic structural variation

nstd33 (Sharp et al. 2007)

Organism:: Human
Study Type:: Case-Set
Submitter:: Evan Eichler
Submitter URL:: http://humanparalogy.gs.washington.edu/structuralvariation/
Description:: We describe multiple individuals with mental retardation and overlapping de novo submicroscopic deletions of 15q24 (1.7–3.9 Mb in size). See Variant Summary counts for nstd33 in dbVar Variant Summary.
Publication(s):: Sharp et al. 2007

Links

Source: NCBI

Detailed Information: Download 4 Variant Regions, Download 4 Variant Calls, Download Both, FTP

Variant Summary
Samplesets
Experimental Details
Validations

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI35 (hg17)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000015.10	Chr15	4	4	Remapped	NC_000015.10

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_000015.8	Chr15	4	4	0	0	0	0	4	4	0	0	0	0

Samplesets

Number of Samplesets: 1

Size:: 4
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Developmental Disabilities

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	Oligo aCGH	Probe signal intensity	Custom NimbeGen array	4
2	Validation	Sequencing	Sequence alignment		1

Validations

Experiment ID	Method	Analysis	Number of Variant Calls Validated
2	Sequencing	Sequence alignment	1

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