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dbVar

Database of genomic structural variation

nsv6311556

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:91,663

Description:NC_000002.11:g.(?_219646906)_(219738567_?)del AND Cholestanol storage disease
Publication(s):Federico et al. 2003

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 301 SVs from 50 studies. See in: genome view

Remapped(Score: Good):218,782,183-218,873,845

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311556	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	218,782,183	218,873,845
nsv6311556	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	219,646,906	219,738,567

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971971	deletion	Multiple	Multiple	CEREBROTENDINOUS XANTHOMATOSIS; CTX; Cerebrotendinous Xanthomatosis; Cerebrotendinous xanthomatosis; Cholestanol storage disease	Pathogenic	ClinVar	RCV001963049.1, VCV001459325.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971971	Remapped	Good	NC_000002.12:g.(?_ 218782183)_(218873 845_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	218,782,183	218,873,845
nssv17971971	Submitted genomic		NC_000002.11:g.(?_ 219646906)_(219738 567_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	219,646,906	219,738,567

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971971	GRCh37: NC_000002.11:g.(?_219646906)_(219738567_?)del	deletion	germline	CEREBROTENDINOUS XANTHOMATOSIS; CTX; Cerebrotendinous Xanthomatosis; Cerebrotendinous xanthomatosis; Cholestanol storage disease	Pathogenic	ClinVar	RCV001963049.1, VCV001459325.1

No genotype data were submitted for this variant

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