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dbVar

Database of genomic structural variation

nsv6311334

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:45,203

Description:NC_000002.11:g.(?_109347210)_(109392412_?)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: 275 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):108,730,754-108,775,956

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311334	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	108,730,754	108,775,956
nsv6311334	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	109,347,210	109,392,412

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972370	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	RCV001974945.3, VCV001439386.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972370	Remapped	Perfect	NC_000002.12:g.(?_ 108730754)_(108775 956_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	108,730,754	108,775,956
nssv17972370	Submitted genomic		NC_000002.11:g.(?_ 109347210)_(109392 412_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	109,347,210	109,392,412

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
nssv17972370	GRCh37: NC_000002.11:g.(?_109347210)_(109392412_?)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	RCV001974945.3, VCV001439386.3

No genotype data were submitted for this variant

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