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dbVar

Database of genomic structural variation

nsv7095955

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:6,219,048

Description:NC_000001.10:g.(?_200522516)_(206945780_?)dup AND Epilepsy, familial adult myoclonic, 5

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: 15034 SVs from 117 studies. See in: genome view

Remapped(Score: Good):200,553,388-206,772,435

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095955	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	200,553,388	206,772,435
nsv7095955	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	200,522,516	206,945,780

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790474	duplication	Multiple	Multiple	Benign adult familial myoclonic epilepsy; EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5; Epilepsy, familial adult myoclonic, 5	Uncertain significance	ClinVar	RCV003116306.2, VCV002425293.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790474	Remapped	Good	NC_000001.11:g.(?_ 200553388)_(206772 435_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	200,553,388	206,772,435
nssv18790474	Submitted genomic		NC_000001.10:g.(?_ 200522516)_(206945 780_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	200,522,516	206,945,780

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
nssv18790474	GRCh37: NC_000001.10:g.(?_200522516)_(206945780_?)dup	duplication	germline	Benign adult familial myoclonic epilepsy; EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5; FAME5; Epilepsy, familial adult myoclonic, 5	Uncertain significance	ClinVar	RCV003116306.2, VCV002425293.2

No genotype data were submitted for this variant

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