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dbVar

Database of genomic structural variation

nsv6291054

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:109,085

Description:GRCh37/hg19 4q22.1(chr4:90647779-90756863)x3 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):89,726,628-89,835,712

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6291054	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	89,726,628	89,835,712
nsv6291054	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	90,647,779	90,756,863

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17957372	copy number gain	Multiple	Multiple	DEMENTIA, LEWY BODY; DLB; Lewy body dementia; PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1; Parkinson disease 1	not provided	ClinVar	RCV001825277.1, VCV001339894.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17957372	Remapped	Perfect	NC_000004.12:g.(?_ 89726628)_(8983571 2_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	89,726,628	89,835,712
nssv17957372	Submitted genomic		NC_000004.11:g.(?_ 90647779)_(9075686 3_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	90,647,779	90,756,863

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	Copy number
nssv17957372	GRCh37: NC_000004.11:g.(?_90647779)_(90756863_?)dup	copy number gain	unknown	DEMENTIA, LEWY BODY; DLB; Lewy body dementia; PARKINSON DISEASE 1, AUTOSOMAL DOMINANT; PARK1; Parkinson disease 1	not provided	ClinVar	RCV001825277.1, VCV001339894.1	3

No genotype data were submitted for this variant

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