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dbVar

Database of genomic structural variation

nsv4682039

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:11,370

Description:NC_000007.14:g.(?_66629045)_(66640414_?)del AND Progressive myoclonic epilepsy type 3

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: 147 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):66,629,045-66,640,414

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682039	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	66,629,045	66,640,414
nsv4682039	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	66,094,032	66,105,401

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213882	deletion	Multiple	Multiple	EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001032290.1, VCV000831752.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213882	Remapped	Perfect	NC_000007.14:g.(?_ 66629045)_(6664041 4_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	66,629,045	66,640,414
nssv16213882	Submitted genomic		NC_000007.13:g.(?_ 66094032)_(6610540 1_?)del	GRCh37 (hg19)		NC_000007.13	Chr7	66,094,032	66,105,401

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
nssv16213882	GRCh37: NC_000007.13:g.(?_66094032)_(66105401_?)del	deletion	germline	EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3; Epilepsy, progressive myoclonic 3; Progressive myoclonic epilepsy type 3; See individual phenotypes in OMIM allelic variants	Pathogenic	ClinVar	RCV001032290.1, VCV000831752.1

No genotype data were submitted for this variant

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