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dbVar

Database of genomic structural variation

estd186 (Thevenon et al. 2012)

Organism:: Human
Study Type:: Case-Set
Submitter:: Julien Thevenon
Description:: Identification of intragenic rearrangements affecting the CG-1 domain of the CAMTA1 gene, associated with autosomal dominant non-progressive congenital ataxia with or without intellectual diasbility. See Variant Summary counts for estd186 in dbVar Variant Summary.
Publication(s):: Thevenon et al. 2012

Links

Source: NCBI

Detailed Information: Download 3 Variant Regions, Download 3 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: NCBI36 (hg18)

Variant Summary for:

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000001.11	Chr1	3	3	Remapped	NC_000001.11

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_000001.9	Chr1	3	3	0	0	0	0	3	3	0	0	0	0

Samplesets

Number of Samplesets: 1

Name:: patientsCAMTA1
Size:: 3
Organisms:: Homo sapiens
Sampleset Phenotype(s):: Cerebellar Ataxia

Experimental Details

Experiment ID	Type	Method	Analysis	Platforms	Number of Variant Calls
1	Discovery	SNP array	SNP genotyping analysis	Illumina HumanCytoSnp-12 Beadchip version 2.1	1
2	Discovery	Oligo aCGH	Probe signal intensity	Agilent 105K CGH array	2
3	Validation	qPCR	Probe signal intensity	Roche LC-480	3

Validations

Experiment ID	Method	Analysis	Platform	Number of Variant Calls Validated
3	qPCR	Probe signal intensity	Roche LC-480	3

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