Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7095479

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:1,363,216

Description:NC_000019.9:g.(?_38375572)_(39738787_?)dup AND RYR1-Related Disorders

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: 4803 SVs from 94 studies. See in: genome view

Remapped(Score: Perfect):37,884,932-39,248,147

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095479	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	37,884,932	39,248,147
nsv7095479	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	38,375,572	39,738,787

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18789368	duplication	Multiple	Multiple	RYR1-Related Disorders	Uncertain significance	ClinVar	RCV003111411.2, VCV002423269.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18789368	Remapped	Perfect	NC_000019.10:g.(?_ 37884932)_(3924814 7_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	37,884,932	39,248,147
nssv18789368	Submitted genomic		NC_000019.9:g.(?_3 8375572)_(39738787 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	38,375,572	39,738,787

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
nssv18789368	GRCh37: NC_000019.9:g.(?_38375572)_(39738787_?)dup	duplication	germline	RYR1-Related Disorders	Uncertain significance	ClinVar	RCV003111411.2, VCV002423269.3

No genotype data were submitted for this variant

You are here: NCBI