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dbVar

Database of genomic structural variation

nsv5381643

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:502,374

Description:NC_000008.10:g.(?_145047561)_(145701149_?)dup AND Brown-Vialetto-van Laere syndrome 2
Publication(s):Manole et al. 2015

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: 2758 SVs from 90 studies. See in: genome view

Remapped(Score: Pass):143,973,393-144,475,766

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381643	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	143,973,393	144,475,766
nsv5381643	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	145,047,561	145,701,149

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866176	duplication	Multiple	Multiple	BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2; Brown-Vialetto-Van Laere syndrome 2; Riboflavin transporter deficiency	Uncertain significance	ClinVar	RCV001301200.1, VCV001004495.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866176	Remapped	Pass	NC_000008.11:g.(?_ 143973393)_(144475 766_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	143,973,393	144,475,766
nssv16866176	Submitted genomic		NC_000008.10:g.(?_ 145047561)_(145701 149_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	145,047,561	145,701,149

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
nssv16866176	GRCh37: NC_000008.10:g.(?_145047561)_(145701149_?)dup	duplication	germline	BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2; Brown-Vialetto-Van Laere syndrome 2; Riboflavin transporter deficiency	Uncertain significance	ClinVar	RCV001301200.1, VCV001004495.1

No genotype data were submitted for this variant

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