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dbVar

Database of genomic structural variation

nsv7063576

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,945

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: 253 SVs from 30 studies. See in: genome view

Submitted genomic46,988,336-46,992,280

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7063576	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	46,988,336	46,992,280
nsv7063576	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	47,384,232	47,388,176

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18763571	inversion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18763571	Submitted genomic		NC_000022.11:g.469 88336_46992280inv	GRCh38 (hg38)		NC_000022.11	Chr22	46,988,336	46,992,280
nssv18763571	Remapped	Perfect	NC_000022.10:g.473 84232_47388176inv	GRCh37.p13	First Pass	NC_000022.10	Chr22	47,384,232	47,388,176

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)
nssv18763571	1.8e-05	5	274690

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