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dbVar

Database of genomic structural variation

nsv7096004

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:92

Description:NC_000001.10:g.(?_76228367)_(76228458_?)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: 115 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):75,762,682-75,762,773

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096004	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	75,762,682	75,762,773
nsv7096004	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	76,228,367	76,228,458

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790971	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	RCV003119072.1, VCV002422130.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790971	Remapped	Perfect	NC_000001.11:g.(?_ 75762682)_(7576277 3_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	75,762,682	75,762,773
nssv18790971	Submitted genomic		NC_000001.10:g.(?_ 76228367)_(7622845 8_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	76,228,367	76,228,458

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
nssv18790971	GRCh37: NC_000001.10:g.(?_76228367)_(76228458_?)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	RCV003119072.1, VCV002422130.2

No genotype data were submitted for this variant

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