nstd52 - Watkins et al 2011 - dbVar Study

Organism:: Human
Study Type:: Case-Set
Submitter:: Scott Watkins
Description:: The study identified a large structural variant in an unaffected parent that was transmitted to a stillborn proband with infantile arterial calcification. See Variant Summary counts for nstd52 in dbVar Variant Summary.

Source: NCBI

Variant Summary

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000006.12	Chr6	1	1	Remapped	NC_000006.12

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000006.11	Chr6	1	1	Remapped	NC_000006.11

Sequence ID	Chr	Number of Variant Regions	Number of Variant Calls	Placement type	Link to graphical display
NC_000006.10	Chr6	1	1	Submitted	NC_000006.10

			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_000006.10	Chr6	1	1	0	0	0	0	1	1	0	0	0	0

	Variant Region remap status		Variant Call remap status
NC_000006.10	Chr6	1	1	0	0	0	0	1	1	0	0	0	0

Name:: paternal_enpp1_deletion
Description:: An unaffected parent was screened by SNP array analysis for deletions on chromosome 6 that disrupt the ENPP1 gene. A deletion in this region was detected by comparison to a CEU reference dataset (60 samples). The parent transmitted the deletion chromosome to one affected offspring who was a compound heterozygote and died of infantile arterial calcification.
Size:: 1
Organisms:: Homo sapiens
Sampleset Phenotype(s):: None reported
Sex:: Male

Samples for sampleset 1
Sample ID	Subject ID	Sex	Ethnicity	Subject Phenotype
86827	86827	Male	European-American	Not reported

Experiment ID	Type	Method	Analysis	Platforms	Data	Number of Variant Calls
1	Discovery	SNP array	SNP genotyping analysis	[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array	GEO	1
2	Validation	qPCR	Probe signal intensity			1

Experiment ID	Method	Analysis	Number of Variant Calls Validated
2	qPCR	Probe signal intensity	1