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dbVar

Database of genomic structural variation

nsv5673157

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:3,746

Description:NC_000001.10:g.(?_197407677)_(197411422_?)del AND multiple conditions
Publication(s):Fahim et al. 2000, Kumaran et al. 2018

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: 130 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):197,438,547-197,442,292

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5673157	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	197,438,547	197,442,292
nsv5673157	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	197,407,677	197,411,422

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17171913	deletion	Multiple	Multiple	LEBER CONGENITAL AMAUROSIS 8; LCA8; Leber congenital amaurosis; Leber congenital amaurosis 8; RETINITIS PIGMENTOSA 12; RP12; Retinitis pigmentosa; Retinitis pigmentosa 12	Pathogenic	ClinVar	RCV001390232.1, VCV001076361.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17171913	Remapped	Perfect	NC_000001.11:g.(?_ 197438547)_(197442 292_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	197,438,547	197,442,292
nssv17171913	Submitted genomic		NC_000001.10:g.(?_ 197407677)_(197411 422_?)del	GRCh37 (hg19)		NC_000001.10	Chr1	197,407,677	197,411,422

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
nssv17171913	GRCh37: NC_000001.10:g.(?_197407677)_(197411422_?)del	deletion	germline	LEBER CONGENITAL AMAUROSIS 8; LCA8; Leber congenital amaurosis; Leber congenital amaurosis 8; RETINITIS PIGMENTOSA 12; RP12; Retinitis pigmentosa; Retinitis pigmentosa 12	Pathogenic	ClinVar	RCV001390232.1, VCV001076361.1

No genotype data were submitted for this variant

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