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dbVar

Database of genomic structural variation

nsv6310075

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:2,450

Description:NC_000016.9:g.(?_3304138)_(3306587_?)del AND Familial Mediterranean fever
Publication(s):Giancane et al. 2015, Hentgen et al. 2013, Shinar et al. 2012, Shinar et al. 2020, Shohat et al. 2000

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: 98 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):3,254,138-3,256,587

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6310075	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	3,254,138	3,256,587
nsv6310075	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	3,304,138	3,306,587

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970467	deletion	Multiple	Multiple	FAMILIAL MEDITERRANEAN FEVER; FMF; Familial Mediterranean Fever; Familial Mediterranean fever; Familial Mediterranean fever	Uncertain significance	ClinVar	RCV001913552.2, VCV001409258.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970467	Remapped	Perfect	NC_000016.10:g.(?_ 3254138)_(3256587_ ?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	3,254,138	3,256,587
nssv17970467	Submitted genomic		NC_000016.9:g.(?_3 304138)_(3306587_? )del	GRCh37 (hg19)		NC_000016.9	Chr16	3,304,138	3,306,587

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
nssv17970467	GRCh37: NC_000016.9:g.(?_3304138)_(3306587_?)del	deletion	germline	FAMILIAL MEDITERRANEAN FEVER; FMF; Familial Mediterranean Fever; Familial Mediterranean fever; Familial Mediterranean fever	Uncertain significance	ClinVar	RCV001913552.2, VCV001409258.2

No genotype data were submitted for this variant

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