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dbVar

Database of genomic structural variation

nsv7095696

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:3,258,151

Description:NC_000001.10:g.(?_112318699)_(115576848_?)del AND Hereditary spastic paraplegia 47
Publication(s):Ashwal et al. 2004, Ebrahimi-Fakhari et al. 2018

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: 8263 SVs from 111 studies. See in: genome view

Remapped(Score: Perfect):111,776,077-115,034,227

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095696	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	111,776,077	115,034,227
nsv7095696	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	112,318,699	115,576,848

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788589	deletion	Multiple	Multiple	AP-4-Associated Hereditary Spastic Paraplegia; SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47; Severe intellectual disability and progressive spastic paraplegia; Spastic paraplegia 47, autosomal recessive	Pathogenic	ClinVar	RCV003109541.2, VCV002425617.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788589	Remapped	Perfect	NC_000001.11:g.(?_ 111776077)_(115034 227_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	111,776,077	115,034,227
nssv18788589	Submitted genomic		NC_000001.10:g.(?_ 112318699)_(115576 848_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	112,318,699	115,576,848

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
nssv18788589	GRCh37: NC_000001.10:g.(?_112318699)_(115576848_?)del	deletion	germline	AP-4-Associated Hereditary Spastic Paraplegia; SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47; Severe intellectual disability and progressive spastic paraplegia; Spastic paraplegia 47, autosomal recessive	Pathogenic	ClinVar	RCV003109541.2, VCV002425617.2

No genotype data were submitted for this variant

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