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dbVar

Database of genomic structural variation

nsv6311923

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:109,040

Description:NC_000004.11:g.(?_90647779)_(90756818_?)dup AND multiple conditions
Publication(s):Farlow et al. 2004

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: 388 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):89,726,628-89,835,667

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311923	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	89,726,628	89,835,667
nsv6311923	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	90,647,779	90,756,818

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17968765	duplication	Multiple	Multiple	DEMENTIA, LEWY BODY; DLB; Lewy body dementia; PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1; Parkinson disease 1	Pathogenic	ClinVar	RCV001942105.3, VCV001454898.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17968765	Remapped	Perfect	NC_000004.12:g.(?_ 89726628)_(8983566 7_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	89,726,628	89,835,667
nssv17968765	Submitted genomic		NC_000004.11:g.(?_ 90647779)_(9075681 8_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	90,647,779	90,756,818

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
nssv17968765	GRCh37: NC_000004.11:g.(?_90647779)_(90756818_?)dup	duplication	germline	DEMENTIA, LEWY BODY; DLB; Lewy body dementia; PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1; Parkinson disease 1	Pathogenic	ClinVar	RCV001942105.3, VCV001454898.4

No genotype data were submitted for this variant

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