nsv7096043 - dbVar Variant - NCBI

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nsv7096043

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:11,361

Description:NC_000001.10:g.(?_26784272)_(26795632_?)del AND Retinitis pigmentosa 59
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: 83 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):26,457,781-26,469,141

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096043	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	26,457,781	26,469,141
nsv7096043	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	26,784,272	26,795,632

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787725	deletion	Multiple	Multiple	RETINITIS PIGMENTOSA 59; RP59; Retinitis pigmentosa; Retinitis pigmentosa 59	Pathogenic	ClinVar	RCV003122733.2, VCV002426900.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787725	Remapped	Perfect	NC_000001.11:g.(?_ 26457781)_(2646914 1_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	26,457,781	26,469,141
nssv18787725	Submitted genomic		NC_000001.10:g.(?_ 26784272)_(2679563 2_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	26,784,272	26,795,632

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
nssv18787725	GRCh37: NC_000001.10:g.(?_26784272)_(26795632_?)del	deletion	germline	RETINITIS PIGMENTOSA 59; RP59; Retinitis pigmentosa; Retinitis pigmentosa 59	Pathogenic	ClinVar	RCV003122733.2, VCV002426900.2

No genotype data were submitted for this variant

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