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dbVar

Database of genomic structural variation

nsv7097140

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:3,219

Description:NC_000005.9:g.(?_33986409)_(33989627_?)dup AND Alpha-methylacyl-CoA racemase deficiency

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: 76 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):33,986,304-33,989,522

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097140	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	33,986,304	33,989,522
nsv7097140	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	33,986,409	33,989,627

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790882	duplication	Multiple	Multiple	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD; Alpha-methylacyl-CoA racemase deficiency; Congenital bile acid synthesis defect type 4	Uncertain significance	ClinVar	RCV003116737.2, VCV002425942.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790882	Remapped	Perfect	NC_000005.10:g.(?_ 33986304)_(3398952 2_?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	33,986,304	33,989,522
nssv18790882	Submitted genomic		NC_000005.9:g.(?_3 3986409)_(33989627 _?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	33,986,409	33,989,627

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
nssv18790882	GRCh37: NC_000005.9:g.(?_33986409)_(33989627_?)dup	duplication	germline	ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY; AMACRD; Alpha-methylacyl-CoA racemase deficiency; Congenital bile acid synthesis defect type 4	Uncertain significance	ClinVar	RCV003116737.2, VCV002425942.2

No genotype data were submitted for this variant

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