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dbVar

Database of genomic structural variation

nsv7095848

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,733

Description:
See descriptions for individual calls in download files

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: 187 SVs from 33 studies. See in: genome view

Remapped(Score: Perfect):108,751,851-108,753,583

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095848	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	108,751,851	108,753,583
nsv7095848	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	109,368,307	109,370,039

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788523	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	RCV003109474.2, VCV002425550.3
nssv18788524	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	RCV003109475.2, VCV002425551.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788523	Remapped	Perfect	NC_000002.12:g.(?_ 108751851)_(108753 583_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	108,751,851	108,753,583
nssv18788524	Remapped	Perfect	NC_000002.12:g.(?_ 108751851)_(108753 583_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	108,751,851	108,753,583
nssv18788523	Submitted genomic		NC_000002.11:g.(?_ 109368307)_(109370 039_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	109,368,307	109,370,039
nssv18788524	Submitted genomic		NC_000002.11:g.(?_ 109368307)_(109370 039_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	109,368,307	109,370,039

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
nssv18788523	GRCh37: NC_000002.11:g.(?_109368307)_(109370039_?)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	RCV003109474.2, VCV002425550.3
nssv18788524	GRCh37: NC_000002.11:g.(?_109368307)_(109370039_?)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	RCV003109475.2, VCV002425551.2

No genotype data were submitted for this variant

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