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dbVar

Database of genomic structural variation

nsv7095636

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:7,164

Description:NC_000001.10:g.(?_76198435)_(76205598_?)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: 144 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):75,732,750-75,739,913

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095636	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	75,732,750	75,739,913
nsv7095636	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	76,198,435	76,205,598

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790974	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	RCV003119075.2, VCV002422133.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790974	Remapped	Perfect	NC_000001.11:g.(?_ 75732750)_(7573991 3_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	75,732,750	75,739,913
nssv18790974	Submitted genomic		NC_000001.10:g.(?_ 76198435)_(7620559 8_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	76,198,435	76,205,598

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
nssv18790974	GRCh37: NC_000001.10:g.(?_76198435)_(76205598_?)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	RCV003119075.2, VCV002422133.2

No genotype data were submitted for this variant

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