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

dbVar

Database of genomic structural variation

nsv5679775

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

Submitted genomic231,118,139-231,118,139

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5679775	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	231,118,139	231,118,139
nsv5679775	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	231,982,853	231,982,853

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17210247	alu insertion	Sequencing	Other
nssv17230609	alu insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17210247	Submitted genomic		NC_000002.12:g.231 118139_231118140in s242	GRCh38 (hg38)		NC_000002.12	Chr2	231,118,139	231,118,139
nssv17230609	Submitted genomic		NC_000002.12:g.231 118139_231118140in s242	GRCh38 (hg38)		NC_000002.12	Chr2	231,118,139	231,118,139
nssv17210247	Remapped	Perfect	NC_000002.11:g.231 982853_231982854in s242	GRCh37.p13	First Pass	NC_000002.11	Chr2	231,982,853	231,982,853
nssv17230609	Remapped	Perfect	NC_000002.11:g.231 982853_231982854in s242	GRCh37.p13	First Pass	NC_000002.11	Chr2	231,982,853	231,982,853

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