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dbVar

Database of genomic structural variation

nsv7095949

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:5,491,527

Description:NC_000001.10:g.(?_19199339)_(24690861_?)dup AND Deficiency of hydroxymethylglutaryl-CoA lyase

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: 16117 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):18,872,845-24,364,371

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095949	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	18,872,845	24,364,371
nsv7095949	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	19,199,339	24,690,861

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787173	duplication	Multiple	Multiple	3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD; 3-hydroxy-3-methylglutaric aciduria; Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance	ClinVar	RCV003122155.2, VCV002422561.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787173	Remapped	Perfect	NC_000001.11:g.(?_ 18872845)_(2436437 1_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	18,872,845	24,364,371
nssv18787173	Submitted genomic		NC_000001.10:g.(?_ 19199339)_(2469086 1_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	19,199,339	24,690,861

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
nssv18787173	GRCh37: NC_000001.10:g.(?_19199339)_(24690861_?)dup	duplication	germline	3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD; 3-hydroxy-3-methylglutaric aciduria; Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance	ClinVar	RCV003122155.2, VCV002422561.3

No genotype data were submitted for this variant

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