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dbVar

Database of genomic structural variation

nsv6311149

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:771

Description:NC_000002.11:g.(?_109367700)_(109368470_?)del 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: 186 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):108,751,244-108,752,014

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6311149	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	108,751,244	108,752,014
nsv6311149	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	109,367,700	109,368,470

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974604	deletion	Multiple	Multiple	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3; Encephalopathy, acute, infection-induced, 3, suceptibility to; Familial acute necrotizing encephalopathy	Uncertain significance	ClinVar	RCV001911511.3, VCV001400827.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974604	Remapped	Perfect	NC_000002.12:g.(?_ 108751244)_(108752 014_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	108,751,244	108,752,014
nssv17974604	Submitted genomic		NC_000002.11:g.(?_ 109367700)_(109368 470_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	109,367,700	109,368,470

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
nssv17974604	GRCh37: NC_000002.11:g.(?_109367700)_(109368470_?)del	deletion	germline	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3; IIAE3; Encephalopathy, acute, infection-induced, 3, suceptibility to; Familial acute necrotizing encephalopathy	Uncertain significance	ClinVar	RCV001911511.3, VCV001400827.3

No genotype data were submitted for this variant

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