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dbVar

Database of genomic structural variation

nsv5680279

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: 163 SVs from 32 studies. See in: genome view

Submitted genomic123,144,868-123,144,868

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5680279	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	123,144,868	123,144,868
nsv5680279	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	124,066,023	124,066,023

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17173565	alu insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17173565	Submitted genomic		NC_000004.12:g.123 144868_123144869in s280	GRCh38 (hg38)		NC_000004.12	Chr4	123,144,868	123,144,868
nssv17173565	Remapped	Perfect	NC_000004.11:g.124 066023_124066024in s280	GRCh37.p13	First Pass	NC_000004.11	Chr4	124,066,023	124,066,023

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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