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dbVar

Database of genomic structural variation

nsv5722820

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 SVA 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: 127 SVs from 26 studies. See in: genome view

Submitted genomic52,171,384-52,171,384

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5722820	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	52,171,384	52,171,384
nsv5722820	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	52,637,056	52,637,056

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17234515	sva insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17234515	Submitted genomic		NC_000001.11:g.521 71384_52171385ins8 69	GRCh38 (hg38)		NC_000001.11	Chr1	52,171,384	52,171,384
nssv17234515	Remapped	Perfect	NC_000001.10:g.526 37056_52637057ins8 69	GRCh37.p13	First Pass	NC_000001.10	Chr1	52,637,056	52,637,056

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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