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dbVar

Database of genomic structural variation

nsv1398123

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:454,973

Description:
Single allele 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: 1435 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):32,137,755-32,592,727

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv1398123	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	32,137,755	32,592,727
nsv1398123	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	32,362,824	32,817,794

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv8639475	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	RCV000203468.1, VCV000219060.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv8639475	Remapped	Perfect	NC_000002.12:g.321 37755_32592727del	GRCh38.p12	First Pass	NC_000002.12	Chr2	32,137,755	32,592,727
nssv8639475	Submitted genomic		NC_000002.11:g.323 62824_32817794del	GRCh37 (hg19)		NC_000002.11	Chr2	32,362,824	32,817,794

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
nssv8639475	GRCh37: NC_000002.11:g.32362824_32817794del	deletion	germline	Autosomal dominant spastic paraplegia type 4; SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT; SPG4; Spastic Paraplegia 4; Spastic paraplegia 4, autosomal dominant	Pathogenic	ClinVar	RCV000203468.1, VCV000219060.1

No genotype data were submitted for this variant

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