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dbVar

Database of genomic structural variation

nsv5675970

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: 213 SVs from 26 studies. See in: genome view

Submitted genomic975,789-975,789

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5675970	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	975,789	975,789
nsv5675970	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	976,025	976,025

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17179102	alu insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17179102	Submitted genomic		NC_000006.12:g.975 789_975790ins240	GRCh38 (hg38)		NC_000006.12	Chr6	975,789	975,789
nssv17179102	Remapped	Perfect	NC_000006.11:g.976 025_976026ins240	GRCh37.p13	First Pass	NC_000006.11	Chr6	976,025	976,025

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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