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dbVar

Database of genomic structural variation

nsv5417931

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:1

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: 118 SVs from 33 studies. See in: genome view

Submitted genomic36,165,240-36,165,240

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5417931	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	36,165,240	36,165,240
nsv5417931	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	36,561,288	36,561,288

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17728756	alu insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17728756	Submitted genomic		NC_000022.11:g.361 65240_36165241ins2 10	GRCh38 (hg38)		NC_000022.11	Chr22	36,165,240	36,165,240
nssv17728756	Remapped	Perfect	NC_000022.10:g.365 61288_36561289ins2 10	GRCh37.p13	First Pass	NC_000022.10	Chr22	36,561,288	36,561,288

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)
nssv17728756	0.036	229	6306

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