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dbVar

Database of genomic structural variation

nsv7095288

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:162,738

Description:NC_000019.9:g.(?_51727962)_(51890697_?)del AND Multiple acyl-CoA dehydrogenase deficiency
Publication(s):Prasun et al. 2020

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: 632 SVs from 63 studies. See in: genome view

Remapped(Score: Good):51,224,706-51,387,443

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095288	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	51,224,706	51,387,443
nsv7095288	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	51,727,962	51,890,697

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792076	deletion	Multiple	Multiple	Glutaric aciduria, type 2; MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD; Multiple Acyl-CoA Dehydrogenase Deficiency; Multiple acyl-CoA dehydrogenase deficiency	Pathogenic	ClinVar	RCV003107570.2, VCV002424337.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792076	Remapped	Good	NC_000019.10:g.(?_ 51224706)_(5138744 3_?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	51,224,706	51,387,443
nssv18792076	Submitted genomic		NC_000019.9:g.(?_5 1727962)_(51890697 _?)del	GRCh37 (hg19)		NC_000019.9	Chr19	51,727,962	51,890,697

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
nssv18792076	GRCh37: NC_000019.9:g.(?_51727962)_(51890697_?)del	deletion	germline	Glutaric aciduria, type 2; MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD; Multiple Acyl-CoA Dehydrogenase Deficiency; Multiple acyl-CoA dehydrogenase deficiency	Pathogenic	ClinVar	RCV003107570.2, VCV002424337.3

No genotype data were submitted for this variant

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