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dbVar

Database of genomic structural variation

nsv4683435

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:50

Description:NC_000001.11:g.(?_75724778)_(75724827_?)del AND Medium-chain acyl-coenzyme A dehydrogenase deficiency
Publication(s):Matern et al. 2000

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: 113 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):75,724,778-75,724,827

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4683435	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	75,724,778	75,724,827
nsv4683435	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	76,190,463	76,190,512

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16214109	deletion	Multiple	Multiple	ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD; Medium chain acyl-CoA dehydrogenase deficiency; Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic	ClinVar	RCV001032633.1, VCV000832116.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16214109	Remapped	Perfect	NC_000001.11:g.(?_ 75724778)_(7572482 7_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	75,724,778	75,724,827
nssv16214109	Submitted genomic		NC_000001.10:g.(?_ 76190463)_(7619051 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	76,190,463	76,190,512

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
nssv16214109	GRCh37: NC_000001.10:g.(?_76190463)_(76190512_?)del	deletion	germline	ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD; Medium chain acyl-CoA dehydrogenase deficiency; Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency; Medium-chain acyl-coenzyme A dehydrogenase deficiency	Pathogenic	ClinVar	RCV001032633.1, VCV000832116.1

No genotype data were submitted for this variant

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