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dbVar

Database of genomic structural variation

nsv5713361

Organism: Homo sapiens

Study:nstd211 (Chuang et al. 2021)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1

Description:Insertion of a Alu mobile element relative to the reference
Publication(s):Chuang et al. 2021

Links to Other Resources

Overlapping Genes

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

Submitted genomic50,111,513-50,111,513

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5713361	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	50,111,513	50,111,513
nsv5713361	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	50,549,942	50,549,942

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17204465	alu insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17204465	Submitted genomic		NC_000022.11:g.501 11513_50111514ins2 79	GRCh38 (hg38)		NC_000022.11	Chr22	50,111,513	50,111,513
nssv17204465	Remapped	Perfect	NC_000022.10:g.505 49942_50549943ins2 79	GRCh37.p13	First Pass	NC_000022.10	Chr22	50,549,942	50,549,942

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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