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dbVar

Database of genomic structural variation

nsv6310474

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:418,805

Description:NC_000019.9:g.(?_18893725)_(19312528_?)del AND Progressive myoclonic epilepsy type 8

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: 1297 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):18,782,915-19,201,719

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310474	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	18,782,915	19,201,719
nsv6310474	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	18,893,725	19,312,528

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971459	deletion	Multiple	Multiple	EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8; Progressive myoclonic epilepsy type 8; Progressive myoclonic epilepsy type 8	Uncertain significance	ClinVar	RCV001955725.2, VCV001443735.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971459	Remapped	Perfect	NC_000019.10:g.(?_ 18782915)_(1920171 9_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	18,782,915	19,201,719
nssv17971459	Submitted genomic		NC_000019.9:g.(?_1 8893725)_(19312528 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	18,893,725	19,312,528

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
nssv17971459	GRCh37: NC_000019.9:g.(?_18893725)_(19312528_?)del	deletion	germline	EPILEPSY, PROGRESSIVE MYOCLONIC, 8; EPM8; Progressive myoclonic epilepsy type 8; Progressive myoclonic epilepsy type 8	Uncertain significance	ClinVar	RCV001955725.2, VCV001443735.2

No genotype data were submitted for this variant

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