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dbVar

Database of genomic structural variation

nsv5673339

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:2,068

Description:NC_000021.8:g.(?_45194083)_(45196150_?)del AND Progressive myoclonic epilepsy

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: 144 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):43,774,202-43,776,269

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673339	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	43,774,202	43,776,269
nsv5673339	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	45,194,083	45,196,150

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171705	deletion	Multiple	Multiple	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Pathogenic	ClinVar	RCV001388208.1, VCV001074795.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171705	Remapped	Perfect	NC_000021.9:g.(?_4 3774202)_(43776269 _?)del	GRCh38.p12	First Pass	NC_000021.9	Chr21	43,774,202	43,776,269
nssv17171705	Submitted genomic		NC_000021.8:g.(?_4 5194083)_(45196150 _?)del	GRCh37 (hg19)		NC_000021.8	Chr21	45,194,083	45,196,150

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
nssv17171705	GRCh37: NC_000021.8:g.(?_45194083)_(45196150_?)del	deletion	germline	Epilepsy, progressive myoclonic; Progressive myoclonic epilepsy; Unverricht-Lundborg disease	Pathogenic	ClinVar	RCV001388208.1, VCV001074795.1

No genotype data were submitted for this variant

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