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dbVar

Database of genomic structural variation

nsv4681807

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:8,903

Description:NC_000001.11:g.(?_45500323)_(45509225_?)del AND Cobalamin C disease
Publication(s):Sloan et al. 2008

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: 134 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):45,500,323-45,509,225

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4681807	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	45,500,323	45,509,225
nsv4681807	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	45,965,995	45,974,897

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16212732	deletion	Multiple	Multiple	Disorders of Intracellular Cobalamin Metabolism; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC; Methylmalonic acidemia with homocystinuria; Methylmalonic acidemia with homocystinuria; Methylmalonic acidemia with homocystinuria, type cblC	Pathogenic	ClinVar	RCV001033744.4, VCV000833292.5

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16212732	Remapped	Perfect	NC_000001.11:g.(?_ 45500323)_(4550922 5_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	45,500,323	45,509,225
nssv16212732	Submitted genomic		NC_000001.10:g.(?_ 45965995)_(4597489 7_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	45,965,995	45,974,897

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
nssv16212732	GRCh37: NC_000001.10:g.(?_45965995)_(45974897_?)del	deletion	germline	Disorders of Intracellular Cobalamin Metabolism; METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE; MAHCC; Methylmalonic acidemia with homocystinuria; Methylmalonic acidemia with homocystinuria; Methylmalonic acidemia with homocystinuria, type cblC	Pathogenic	ClinVar	RCV001033744.4, VCV000833292.5

No genotype data were submitted for this variant

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