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dbVar

Database of genomic structural variation

nsv7095478

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:3,476,144

Description:NC_000019.9:g.(?_33167170)_(36643309_?)dup AND Hereditary spastic paraplegia 75

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: 11225 SVs from 118 studies. See in: genome view

Remapped(Score: Perfect):32,676,264-36,152,407

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095478	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	32,676,264	36,152,407
nsv7095478	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	33,167,170	36,643,309

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788220	duplication	Multiple	Multiple	Autosomal recessive spastic paraplegia type 75; Hereditary spastic paraplegia 75; SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE; SPG75	Uncertain significance	ClinVar	RCV003107659.2, VCV002424426.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788220	Remapped	Perfect	NC_000019.10:g.(?_ 32676264)_(3615240 7_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	32,676,264	36,152,407
nssv18788220	Submitted genomic		NC_000019.9:g.(?_3 3167170)_(36643309 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	33,167,170	36,643,309

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
nssv18788220	GRCh37: NC_000019.9:g.(?_33167170)_(36643309_?)dup	duplication	germline	Autosomal recessive spastic paraplegia type 75; Hereditary spastic paraplegia 75; SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE; SPG75	Uncertain significance	ClinVar	RCV003107659.2, VCV002424426.3

No genotype data were submitted for this variant

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