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dbVar

Database of genomic structural variation

nsv5543638

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:59,298

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: 608 SVs from 34 studies. See in: genome view

Submitted genomic20,067,034-20,126,351

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5543638	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000024.10	ChrY	20,067,034 (+40)	20,126,331 (-20, +20)
nsv5543638	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000024.9	ChrY	22,228,920 (+40)	22,288,217 (-20, +20)

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17742846	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17742846	Submitted genomic		NC_000024.10:g.(?_ 20067074)_(2012631 1_20126351)inv	GRCh38 (hg38)		NC_000024.10	ChrY	20,067,034 (+40)	20,126,331 (-20, +20)
nssv17742846	Remapped	Perfect	NC_000024.9:g.(?_2 2228960)_(22288197 _22288237)inv	GRCh37.p13	First Pass	NC_000024.9	ChrY	22,228,920 (+40)	22,288,217 (-20, +20)

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)
nssv17742846	0.097	313	3228

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