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dbVar

Database of genomic structural variation

nsv5673235

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:11,512

Description:NC_000019.9:g.(?_39066549)_(39078060_?)del 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: 150 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):38,575,909-38,587,420

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673235	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	38,575,909	38,587,420
nsv5673235	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	39,066,549	39,078,060

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17172152	deletion	Multiple	Multiple	RYR1-Related Disorders	Likely pathogenic	ClinVar	RCV001377916.5, VCV001066816.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17172152	Remapped	Perfect	NC_000019.10:g.(?_ 38575909)_(3858742 0_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	38,575,909	38,587,420
nssv17172152	Submitted genomic		NC_000019.9:g.(?_3 9066549)_(39078060 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	39,066,549	39,078,060

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
nssv17172152	GRCh37: NC_000019.9:g.(?_39066549)_(39078060_?)del	deletion	germline	RYR1-Related Disorders	Likely pathogenic	ClinVar	RCV001377916.5, VCV001066816.5

No genotype data were submitted for this variant

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