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dbVar

Database of genomic structural variation

nsv5694100

Organism: Homo sapiens

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

Variant Calls:2
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: 198 SVs from 42 studies. See in: genome view

Submitted genomic17,650,665-17,650,665

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5694100	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	17,650,665	17,650,665
nsv5694100	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	17,650,896	17,650,896

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17179249	alu insertion	Sequencing	Other
nssv17224976	alu insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17179249	Submitted genomic		NC_000006.12:g.176 50665_17650666ins2 81	GRCh38 (hg38)		NC_000006.12	Chr6	17,650,665	17,650,665
nssv17224976	Submitted genomic		NC_000006.12:g.176 50665_17650666ins2 80	GRCh38 (hg38)		NC_000006.12	Chr6	17,650,665	17,650,665
nssv17179249	Remapped	Perfect	NC_000006.11:g.176 50896_17650897ins2 81	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,650,896	17,650,896
nssv17224976	Remapped	Perfect	NC_000006.11:g.176 50896_17650897ins2 80	GRCh37.p13	First Pass	NC_000006.11	Chr6	17,650,896	17,650,896

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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