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dbVar

Database of genomic structural variation

nsv5721885

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 L1 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: 156 SVs from 33 studies. See in: genome view

Submitted genomic9,002,945-9,002,945

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5721885	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	9,002,945	9,002,945
nsv5721885	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	9,155,541	9,155,541

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17244627	line1 insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17244627	Submitted genomic		NC_000012.12:g.900 2945_9002946ins475	GRCh38 (hg38)		NC_000012.12	Chr12	9,002,945	9,002,945
nssv17244627	Remapped	Perfect	NC_000012.11:g.915 5541_9155542ins475	GRCh37.p13	First Pass	NC_000012.11	Chr12	9,155,541	9,155,541

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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