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dbVar

Database of genomic structural variation

nsv5426896

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

Publication(s):Byrska-Bishop et al. 2022

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: 129 SVs from 21 studies. See in: genome view

Submitted genomic33,662,964-33,663,015

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5426896	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	33,662,964	33,663,015
nsv5426896	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	32,250,770	32,250,821

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17732040	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17732040	Submitted genomic		NC_000020.11:g.336 62964_33663015ins2 80	GRCh38 (hg38)		NC_000020.11	Chr20	33,662,964	33,663,015
nssv17732040	Remapped	Perfect	NC_000020.10:g.322 50770_32250821ins2 80	GRCh37.p13	First Pass	NC_000020.10	Chr20	32,250,770	32,250,821

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17732040	<0.001	1	6404

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