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dbVar

Database of genomic structural variation

nsv7096317

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:10,749

Description:NC_000022.10:g.(?_50512625)_(50523373_?)dup AND not provided

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: 276 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):50,074,196-50,084,944

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096317	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	50,074,196	50,084,944
nsv7096317	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	50,512,625	50,523,373

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786682	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003119527.2, VCV002426089.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786682	Remapped	Perfect	NC_000022.11:g.(?_ 50074196)_(5008494 4_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	50,074,196	50,084,944
nssv18786682	Submitted genomic		NC_000022.10:g.(?_ 50512625)_(5052337 3_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	50,512,625	50,523,373

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
nssv18786682	GRCh37: NC_000022.10:g.(?_50512625)_(50523373_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003119527.2, VCV002426089.2

No genotype data were submitted for this variant

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