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dbVar

Database of genomic structural variation

nsv5564425

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:731,543

Description:NC_000002.11:g.(?_108604612)_(109336154_?)dup AND Familial acute necrotizing encephalopathy

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: 1843 SVs from 95 studies. See in: genome view

Remapped(Score: Perfect):107,988,156-108,719,698

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5564425	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	107,988,156	108,719,698
nsv5564425	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	108,604,612	109,336,154

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17059198	duplication	Multiple	Multiple	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3; Encephalopathy, acute, infection-induced, 3, suceptibility to; Familial acute necrotizing encephalopathy	Uncertain significance	ClinVar	RCV001374166.2, VCV001064222.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17059198	Remapped	Perfect	NC_000002.12:g.(?_ 107988156)_(108719 698_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	107,988,156	108,719,698
nssv17059198	Submitted genomic		NC_000002.11:g.(?_ 108604612)_(109336 154_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	108,604,612	109,336,154

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
nssv17059198	GRCh37: NC_000002.11:g.(?_108604612)_(109336154_?)dup	duplication	germline	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3; Encephalopathy, acute, infection-induced, 3, suceptibility to; Familial acute necrotizing encephalopathy	Uncertain significance	ClinVar	RCV001374166.2, VCV001064222.2

No genotype data were submitted for this variant

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