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dbVar

Database of genomic structural variation

nstd93 (Lindstrand et al. 2014)

Organism:: Human
Study Type:: Case-Set
Submitter:: Erica Davis
Description:: A custom high-resolution oligonucleotide array-comparative genomic hybridization scan of 772 genes prioritized from the ciliary proteome in patients with Bardet-Biedl Syndrome and controls. See Variant Summary counts for nstd93 in dbVar Variant Summary.
Publication(s):: Lindstrand et al. 2014

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.p12 (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_000011.10	Chr11	1	1	Remapped	NC_000011.10

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_000011.9	Chr11	1	1	0	0	0	0	1	1	0	0	0	0

Samplesets

Number of Samplesets: 1

Size:: 1
Organisms:: Homo sapiens
Sampleset Phenotype(s):: BARDET-BIEDL SYNDROME 1; BBS1

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	Oligo aCGH	Probe signal intensity	Agilent 180k	1
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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