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dbVar

Database of genomic structural variation

nsv7095644

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:1,000,878

Description:NC_000019.9:g.(?_1456055)_(2456931_?)dup AND multiple conditions

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: 5343 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):1,456,056-2,456,933

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095644	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	1,456,056	2,456,933
nsv7095644	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	1,456,055	2,456,931

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787881	duplication	Multiple	Multiple	EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9; Epilepsy, progressive myoclonic, 9; LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD; Lipodystrophy, partial, acquired, susceptibility to; Progressive myoclonic epilepsy type 9	Uncertain significance	ClinVar	RCV003122897.2, VCV002427064.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787881	Remapped	Perfect	NC_000019.10:g.(?_ 1456056)_(2456933_ ?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	1,456,056	2,456,933
nssv18787881	Submitted genomic		NC_000019.9:g.(?_1 456055)_(2456931_? )dup	GRCh37 (hg19)		NC_000019.9	Chr19	1,456,055	2,456,931

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
nssv18787881	GRCh37: NC_000019.9:g.(?_1456055)_(2456931_?)dup	duplication	germline	EPILEPSY, PROGRESSIVE MYOCLONIC, 9; EPM9; Epilepsy, progressive myoclonic, 9; LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO; APLD; Lipodystrophy, partial, acquired, susceptibility to; Progressive myoclonic epilepsy type 9	Uncertain significance	ClinVar	RCV003122897.2, VCV002427064.2

No genotype data were submitted for this variant

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