Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5693053

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

Submitted genomic59,849,339-59,849,339

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5693053	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	59,849,339	59,849,339
nsv5693053	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	60,315,011	60,315,011

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17230246	alu insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17230246	Submitted genomic		NC_000001.11:g.598 49339_59849340ins2 81	GRCh38 (hg38)		NC_000001.11	Chr1	59,849,339	59,849,339
nssv17230246	Remapped	Perfect	NC_000001.10:g.603 15011_60315012ins2 81	GRCh37.p13	First Pass	NC_000001.10	Chr1	60,315,011	60,315,011

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.

You are here: NCBI