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dbVar

Database of genomic structural variation

nsv6634485

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:30,954

Description:NC_000019.9:g.(46057170_46087880)_(46088123_?)
del AND 3-Methylglutaconic aciduria type 3
Publication(s):Gunay-Aygun et al. 2006

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

Remapped(Score: Perfect):45,553,912-45,584,865

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop
nsv6634485	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	45,553,912	45,584,622	45,584,865
nsv6634485	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	46,057,170	46,087,880	46,088,123

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18326546	deletion	Multiple	Multiple	3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3; 3-Methylglutaconic aciduria type 3; 3-methylglutaconic aciduria type 3; OPA3-Related 3-Methylglutaconic Aciduria	Likely pathogenic	ClinVar	RCV002308697.1, VCV001723421.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop
nssv18326546	Remapped	Perfect	NC_000019.10:g.(45 553912_45584622)_( 45584865_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	45,553,912	45,584,622	45,584,865
nssv18326546	Submitted genomic		NC_000019.9:g.(460 57170_46087880)_(4 6088123_?)del	GRCh37 (hg19)		NC_000019.9	Chr19	46,057,170	46,087,880	46,088,123

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
nssv18326546	GRCh37: NC_000019.9:g.(46057170_46087880)_(46088123_?)del	deletion	germline	3-@METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3; 3-Methylglutaconic aciduria type 3; 3-methylglutaconic aciduria type 3; OPA3-Related 3-Methylglutaconic Aciduria	Likely pathogenic	ClinVar	RCV002308697.1, VCV001723421.1

No genotype data were submitted for this variant

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