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dbVar

Database of genomic structural variation

nsv3871535

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:141,045

Description:NM_001142800.1(EYS):c.(748+1_749-1)_(1299+1_13
00-1)del AND Retinitis pigmentosa 25
Publication(s):Fahim et al. 2000

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: 610 SVs from 78 studies. See in: genome view

Submitted genomic65,353,618-65,494,662

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3871535	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	65,353,618	65,384,385	65,490,708	65,494,662
nsv3871535	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	66,063,511	66,094,278	66,200,601	66,204,555

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15152024	deletion	Multiple	Multiple	RETINITIS PIGMENTOSA 25; RP25; Retinitis pigmentosa; Retinitis pigmentosa 25	Pathogenic	ClinVar	RCV000678559.2, VCV000560451.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15152024	Submitted genomic		NC_000006.12:g.(65 353618_65384385)_( 65490708_65494662) del	GRCh38 (hg38)		NC_000006.12	Chr6	65,353,618	65,384,385	65,490,708	65,494,662
nssv15152024	Remapped	Perfect	NC_000006.11:g.(66 063511_66094278)_( 66200601_66204555) del	GRCh37.p13	First Pass	NC_000006.11	Chr6	66,063,511	66,094,278	66,200,601	66,204,555

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
nssv15152024	GRCh38: NC_000006.12:g.(65353618_65384385)_(65490708_65494662)del	deletion	inherited	RETINITIS PIGMENTOSA 25; RP25; Retinitis pigmentosa; Retinitis pigmentosa 25	Pathogenic	ClinVar	RCV000678559.2, VCV000560451.2

No genotype data were submitted for this variant

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