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dbVar

Database of genomic structural variation

nsv6312905

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:3,262,292

Description:NC_000008.10:g.(?_16850399)_(20112692_?)dup AND Hereditary spastic paraplegia 53

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: 10327 SVs from 118 studies. See in: genome view

Remapped(Score: Perfect):16,992,890-20,255,181

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312905	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	16,992,890	20,255,181
nsv6312905	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	16,850,399	20,112,692

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787078	duplication	Multiple	Multiple	Autosomal recessive spastic paraplegia type 53; Hereditary spastic paraplegia 53; SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53	Uncertain significance	ClinVar	RCV003120735.7, VCV001377072.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787078	Remapped	Perfect	NC_000008.11:g.(?_ 16992890)_(2025518 1_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	16,992,890	20,255,181
nssv18787078	Submitted genomic		NC_000008.10:g.(?_ 16850399)_(2011269 2_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	16,850,399	20,112,692

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
nssv18787078	GRCh37: NC_000008.10:g.(?_16850399)_(20112692_?)dup	duplication	germline	Autosomal recessive spastic paraplegia type 53; Hereditary spastic paraplegia 53; SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53	Uncertain significance	ClinVar	RCV003120735.7, VCV001377072.3

No genotype data were submitted for this variant

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