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dbVar

Database of genomic structural variation

nsv7094433

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:958,485

Description:NC_000014.8:g.(?_54410919)_(55369403_?)del AND multiple conditions
Publication(s):Albanese et al. 2011, Furukawa et al. 2002

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: 2250 SVs from 88 studies. See in: genome view

Remapped(Score: Perfect):53,944,201-54,902,685

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7094433	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	53,944,201	54,902,685
nsv7094433	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	54,410,919	55,369,403

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787116	deletion	Multiple	Multiple	Autosomal dominant dopa-responsive dystonia; DYSTONIA, DOPA-RESPONSIVE; DRD; Dystonia 5, Dopa-responsive type; GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia; GTP cyclohydrolase I deficiency	Pathogenic	ClinVar	RCV003122095.2, VCV002422501.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787116	Remapped	Perfect	NC_000014.9:g.(?_5 3944201)_(54902685 _?)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	53,944,201	54,902,685
nssv18787116	Submitted genomic		NC_000014.8:g.(?_5 4410919)_(55369403 _?)del	GRCh37 (hg19)		NC_000014.8	Chr14	54,410,919	55,369,403

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
nssv18787116	GRCh37: NC_000014.8:g.(?_54410919)_(55369403_?)del	deletion	germline	Autosomal dominant dopa-responsive dystonia; DYSTONIA, DOPA-RESPONSIVE; DRD; Dystonia 5, Dopa-responsive type; GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia; GTP cyclohydrolase I deficiency	Pathogenic	ClinVar	RCV003122095.2, VCV002422501.2

No genotype data were submitted for this variant

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