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dbVar

Database of genomic structural variation

nsv5380720

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:1,661,305

Description:NC_000011.9:g.(?_17552691)_(19213995_?)dup AND Progressive myoclonic epilepsy type 7

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: 4789 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):17,531,144-19,192,448

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380720	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	17,531,144	19,192,448
nsv5380720	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	17,552,691	19,213,995

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16865945	duplication	Multiple	Multiple	EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7; Epilepsy, progressive myoclonic 7; Progressive myoclonic epilepsy type 7	Uncertain significance	ClinVar	RCV001295201.4, VCV000999235.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16865945	Remapped	Perfect	NC_000011.10:g.(?_ 17531144)_(1919244 8_?)dup	GRCh38.p12	First Pass	NC_000011.10	Chr11	17,531,144	19,192,448
nssv16865945	Submitted genomic		NC_000011.9:g.(?_1 7552691)_(19213995 _?)dup	GRCh37 (hg19)		NC_000011.9	Chr11	17,552,691	19,213,995

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
nssv16865945	GRCh37: NC_000011.9:g.(?_17552691)_(19213995_?)dup	duplication	germline	EPILEPSY, PROGRESSIVE MYOCLONIC 7; EPM7; Epilepsy, progressive myoclonic 7; Progressive myoclonic epilepsy type 7	Uncertain significance	ClinVar	RCV001295201.4, VCV000999235.4

No genotype data were submitted for this variant

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