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dbVar

Database of genomic structural variation

nstd98 (Campbell et al. 2014b)

Organism:: Human
Study Type:: Case-Set
Submitter:: Ian Campbell
Description:: Breakpoint determination of HERV-HERV mediated CNVs in individuals with diverse phenotypes from a clinical laboratory. See Variant Summary counts for nstd98 in dbVar Variant Summary.
Publication(s):: Campbell et al. 2014

Links

Source: NCBI

Detailed Information: Download 16 Variant Regions, Download 18 Variant Calls, 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_000001.11	Chr1	2	2	Remapped	NC_000001.11
NC_000002.12	Chr2	4	5	Remapped	NC_000002.12
NC_000003.12	Chr3	7	8	Remapped	NC_000003.12
NC_000011.10	Chr11	3	3	Remapped	NC_000011.10

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.10	Chr1	2	2	Submitted	NC_000001.10
NC_000002.11	Chr2	4	5	Submitted	NC_000002.11
NC_000003.11	Chr3	7	8	Submitted	NC_000003.11
NC_000011.9	Chr11	3	3	Submitted	NC_000011.9

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_000001.10	Chr1	2	2	0	0	0	0	2	2	0	0	0	0
NC_000002.11	Chr2	4	4	0	0	0	0	5	5	0	0	0	0
NC_000003.11	Chr3	7	7	0	0	0	0	8	8	0	0	0	0
NC_000011.9	Chr11	3	3	0	0	0	0	3	3	0	0	0	0

Samplesets

Number of Samplesets: 1

Size:: 18
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported

Experimental Details

Experiment ID	Type	Method	Analysis	Number of Variant Calls
1	Discovery	Sequencing	Sequence alignment	18

Validations

No validation data were submitted for this study.

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