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dbVar

Database of genomic structural variation

nsv7097975

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:8,793

Description:NC_000023.10:g.(?_103031924)_(103040717_?)dup AND Hereditary spastic paraplegia 2
Publication(s):Hobson et al. 1999

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: 117 SVs from 25 studies. See in: genome view

Remapped(Score: Good):103,776,996-103,785,788

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097975	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	103,776,996	103,785,788
nsv7097975	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	103,031,924	103,040,717

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789349	duplication	Multiple	Multiple	PLP1-Related Disorders; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2	Uncertain significance	ClinVar	RCV003111389.2, VCV002423247.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789349	Remapped	Good	NC_000023.11:g.(?_ 103776996)_(103785 788_?)dup	GRCh38.p12	First Pass	NC_000023.11	ChrX	103,776,996	103,785,788
nssv18789349	Submitted genomic		NC_000023.10:g.(?_ 103031924)_(103040 717_?)dup	GRCh37 (hg19)		NC_000023.10	ChrX	103,031,924	103,040,717

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
nssv18789349	GRCh37: NC_000023.10:g.(?_103031924)_(103040717_?)dup	duplication	germline	PLP1-Related Disorders; SPASTIC PARAPLEGIA 2, X-LINKED; SPG2; Spastic paraplegia 2; Spastic paraplegia type 2	Uncertain significance	ClinVar	RCV003111389.2, VCV002423247.2

No genotype data were submitted for this variant

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