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dbVar

Database of genomic structural variation

nsv5673700

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:5,367

Description:NC_000002.11:g.(?_32366967)_(32372333_?)del AND Hereditary spastic paraplegia 4
Publication(s):Durr 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: 115 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):32,141,898-32,147,264

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673700	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	32,141,898	32,147,264
nsv5673700	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	32,366,967	32,372,333

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172883	deletion	Multiple	Multiple	Autosomal dominant spastic paraplegia type 4; SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; Spastic Paraplegia 4; Spastic paraplegia 4, autosomal dominant	Pathogenic	ClinVar	RCV001384903.2, VCV001072249.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172883	Remapped	Perfect	NC_000002.12:g.(?_ 32141898)_(3214726 4_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	32,141,898	32,147,264
nssv17172883	Submitted genomic		NC_000002.11:g.(?_ 32366967)_(3237233 3_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	32,366,967	32,372,333

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
nssv17172883	GRCh37: NC_000002.11:g.(?_32366967)_(32372333_?)del	deletion	germline	Autosomal dominant spastic paraplegia type 4; SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; Spastic Paraplegia 4; Spastic paraplegia 4, autosomal dominant	Pathogenic	ClinVar	RCV001384903.2, VCV001072249.2

No genotype data were submitted for this variant

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