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dbVar

Database of genomic structural variation

nsv5381496

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:400,062

Description:NC_000003.11:g.(?_38591802)_(38991863_?)dup AND multiple conditions
Publication(s):Schon et al. 2018

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: 796 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):38,550,311-38,950,372

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381496	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	38,550,311	38,950,372
nsv5381496	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	38,591,802	38,991,863

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16866609	duplication	Multiple	Multiple	EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3; Episodic pain syndrome, familial, 3; Familial episodic pain syndrome; Familial episodic pain syndrome with predominantly lower limb involvement; Hereditary sensory and autonomic neuropathy type 7; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7; Neuropathy, hereditary sensory and autonomic, type VII	Uncertain significance	ClinVar	RCV001314625.3, VCV001015723.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16866609	Remapped	Perfect	NC_000003.12:g.(?_ 38550311)_(3895037 2_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	38,550,311	38,950,372
nssv16866609	Submitted genomic		NC_000003.11:g.(?_ 38591802)_(3899186 3_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	38,591,802	38,991,863

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
nssv16866609	GRCh37: NC_000003.11:g.(?_38591802)_(38991863_?)dup	duplication	germline	EPISODIC PAIN SYNDROME, FAMILIAL, 3; FEPS3; Episodic pain syndrome, familial, 3; Familial episodic pain syndrome; Familial episodic pain syndrome with predominantly lower limb involvement; Hereditary sensory and autonomic neuropathy type 7; NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII; HSAN7; Neuropathy, hereditary sensory and autonomic, type VII	Uncertain significance	ClinVar	RCV001314625.3, VCV001015723.3

No genotype data were submitted for this variant

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