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dbVar

Database of genomic structural variation

nsv3881308

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,682

Description:NC_000001.11:g.(?_75761102)_(75762783_?)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: 119 SVs from 29 studies. See in: genome view

Submitted genomic75,761,102-75,762,783

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Inner Start	Inner Stop
nsv3881308	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000001.11	Chr1	75,761,102	75,762,783
nsv3881308	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000001.10	Chr1	76,226,787	76,228,468

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15161463	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	RCV000708106.3, VCV000583848.3

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Inner Start	Inner Stop
nssv15161463	Submitted genomic	NC_000001.11:g.(?_ 75761102)_(7576278 3_?)del	GRCh38 (hg38)	NC_000001.11	Chr1	75,761,102	75,762,783
nssv15161463	Submitted genomic	NC_000001.10:g.(?_ 76226787)_(7622846 8_?)del	GRCh37 (hg19)	NC_000001.10	Chr1	76,226,787	76,228,468

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
nssv15161463	GRCh37: NC_000001.10:g.(?_76226787)_(76228468_?)del, GRCh38: NC_000001.11:g.(?_75761102)_(75762783_?)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	RCV000708106.3, VCV000583848.3

No genotype data were submitted for this variant

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