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dbVar

Database of genomic structural variation

nsv5381452

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:975,271

Description:NC_000006.11:g.(?_51930764)_(52906034_?)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: 2496 SVs from 93 studies. See in: genome view

Remapped(Score: Perfect):52,065,966-53,041,236

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381452	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	52,065,966	53,041,236
nsv5381452	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	51,930,764	52,906,034

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867284	deletion	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001346439.2, VCV001042479.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867284	Remapped	Perfect	NC_000006.12:g.(?_ 52065966)_(5304123 6_?)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	52,065,966	53,041,236
nssv16867284	Submitted genomic		NC_000006.11:g.(?_ 51930764)_(5290603 4_?)del	GRCh37 (hg19)		NC_000006.11	Chr6	51,930,764	52,906,034

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
nssv16867284	GRCh37: NC_000006.11:g.(?_51930764)_(52906034_?)del	deletion	germline	not provided	Uncertain significance	ClinVar	RCV001346439.2, VCV001042479.2

No genotype data were submitted for this variant

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