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dbVar

Database of genomic structural variation

nsv7096022

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:141

Description:NC_000020.10:g.(?_33222399)_(33222539_?)del 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: 105 SVs from 16 studies. See in: genome view

Remapped(Score: Perfect):34,634,595-34,634,735

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096022	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	34,634,595	34,634,735
nsv7096022	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	33,222,399	33,222,539

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787995	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003123015.2, VCV002427181.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787995	Remapped	Perfect	NC_000020.11:g.(?_ 34634595)_(3463473 5_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	34,634,595	34,634,735
nssv18787995	Submitted genomic		NC_000020.10:g.(?_ 33222399)_(3322253 9_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	33,222,399	33,222,539

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
nssv18787995	GRCh37: NC_000020.10:g.(?_33222399)_(33222539_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV003123015.2, VCV002427181.2

No genotype data were submitted for this variant

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