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dbVar

Database of genomic structural variation

nsv5381201

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:112,847

Description:NC_000019.9:g.(?_54297303)_(54410149_?)dup AND Familial cold autoinflammatory syndrome 2

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: 775 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):53,794,049-53,906,895

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381201	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	53,794,049	53,906,895
nsv5381201	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	54,297,303	54,410,149

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866044	duplication	Multiple	Multiple	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2; Familial cold autoinflammatory syndrome 2; NLRP12-associated hereditary periodic fever syndrome	Uncertain significance	ClinVar	RCV001296829.1, VCV001000671.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866044	Remapped	Perfect	NC_000019.10:g.(?_ 53794049)_(5390689 5_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	53,794,049	53,906,895
nssv16866044	Submitted genomic		NC_000019.9:g.(?_5 4297303)_(54410149 _?)dup	GRCh37 (hg19)		NC_000019.9	Chr19	54,297,303	54,410,149

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
nssv16866044	GRCh37: NC_000019.9:g.(?_54297303)_(54410149_?)dup	duplication	germline	FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2; FCAS2; Familial cold autoinflammatory syndrome 2; NLRP12-associated hereditary periodic fever syndrome	Uncertain significance	ClinVar	RCV001296829.1, VCV001000671.1

No genotype data were submitted for this variant

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