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dbVar

Database of genomic structural variation

nsv7097650

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:342,269

Description:NC_000008.10:g.(?_126036859)_(126379127_?)dup AND multiple conditions
Publication(s):Valdmanis et al. 2008

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: 1069 SVs from 73 studies. See in: genome view

Remapped(Score: Perfect):125,024,617-125,366,885

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097650	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	125,024,617	125,366,885
nsv7097650	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	126,036,859	126,379,127

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790934	duplication	Multiple	Multiple	Autosomal dominant spastic paraplegia type 8; Ritscher-Schinzel syndrome; Ritscher-Schinzel syndrome; SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8; See individual phenotypes in OMIM allelic variants; Spastic Paraplegia 8; Spastic paraplegia 8	Uncertain significance	ClinVar	RCV003116791.2, VCV002425993.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790934	Remapped	Perfect	NC_000008.11:g.(?_ 125024617)_(125366 885_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	125,024,617	125,366,885
nssv18790934	Submitted genomic		NC_000008.10:g.(?_ 126036859)_(126379 127_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	126,036,859	126,379,127

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
nssv18790934	GRCh37: NC_000008.10:g.(?_126036859)_(126379127_?)dup	duplication	germline	Autosomal dominant spastic paraplegia type 8; Ritscher-Schinzel syndrome; Ritscher-Schinzel syndrome; SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT; SPG8; See individual phenotypes in OMIM allelic variants; Spastic Paraplegia 8; Spastic paraplegia 8	Uncertain significance	ClinVar	RCV003116791.2, VCV002425993.2

No genotype data were submitted for this variant

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