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dbVar

Database of genomic structural variation

nsv5380931

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:398,205

Description:
See descriptions for individual calls in download files

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: 1452 SVs from 87 studies. See in: genome view

Remapped(Score: Perfect):29,790,760-30,188,964

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5380931	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	29,790,760	30,188,964
nsv5380931	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	29,802,081	30,200,285

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867048	duplication	Multiple	Multiple	Dystonia 10; Episodic kinesigenic dyskinesia; Paroxysmal kinesigenic dyskinesia	Uncertain significance	ClinVar	RCV001325791.1, VCV001025477.1
nssv17171739	deletion	Multiple	Multiple	Dystonia 10; Episodic kinesigenic dyskinesia; Paroxysmal kinesigenic dyskinesia	Pathogenic	ClinVar	RCV001388947.1, VCV001075384.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867048	Remapped	Perfect	NC_000016.10:g.(?_ 29790760)_(3018896 4_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,790,760	30,188,964
nssv17171739	Remapped	Perfect	NC_000016.10:g.(?_ 29790760)_(3018896 4_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	29,790,760	30,188,964
nssv16867048	Submitted genomic		NC_000016.9:g.(?_2 9802081)_(30200285 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	29,802,081	30,200,285
nssv17171739	Submitted genomic		NC_000016.9:g.(?_2 9802081)_(30200285 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	29,802,081	30,200,285

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
nssv16867048	GRCh37: NC_000016.9:g.(?_29802081)_(30200285_?)dup	duplication	germline	Dystonia 10; Episodic kinesigenic dyskinesia; Paroxysmal kinesigenic dyskinesia	Uncertain significance	ClinVar	RCV001325791.1, VCV001025477.1
nssv17171739	GRCh37: NC_000016.9:g.(?_29802081)_(30200285_?)del	deletion	germline	Dystonia 10; Episodic kinesigenic dyskinesia; Paroxysmal kinesigenic dyskinesia	Pathogenic	ClinVar	RCV001388947.1, VCV001075384.1

No genotype data were submitted for this variant

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