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dbVar

Database of genomic structural variation

nsv7094284

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:52,312

Description:NC_000015.9:g.(?_38591554)_(38643865_?)dup AND Legius syndrome
Publication(s):Stevenson et al. 2010

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: 211 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):38,299,353-38,351,664

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094284	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	38,299,353	38,351,664
nsv7094284	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	38,591,554	38,643,865

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790069	duplication	Multiple	Multiple	LEGIUS SYNDROME; LGSS; Legius Syndrome; Legius syndrome; Legius syndrome	Uncertain significance	ClinVar	RCV003113725.2, VCV002427396.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790069	Remapped	Perfect	NC_000015.10:g.(?_ 38299353)_(3835166 4_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	38,299,353	38,351,664
nssv18790069	Submitted genomic		NC_000015.9:g.(?_3 8591554)_(38643865 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	38,591,554	38,643,865

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
nssv18790069	GRCh37: NC_000015.9:g.(?_38591554)_(38643865_?)dup	duplication	germline	LEGIUS SYNDROME; LGSS; Legius Syndrome; Legius syndrome; Legius syndrome	Uncertain significance	ClinVar	RCV003113725.2, VCV002427396.3

No genotype data were submitted for this variant

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