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dbVar

Database of genomic structural variation

nsv7059139

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:7,268,480

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: 25961 SVs from 121 studies. See in: genome view

Submitted genomic12,641,624-19,910,103

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7059139	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	12,641,624	19,910,103
nsv7059139	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	12,752,438	20,020,912

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18757823	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
nssv18757823	Submitted genomic		NC_000019.10:g.126 41624_19910103inv	GRCh38 (hg38)		NC_000019.10	Chr19	12,641,624	19,910,103
nssv18757823	Remapped	Perfect	NC_000019.9:g.1275 2438_20020912inv	GRCh37.p13	First Pass	NC_000019.9	Chr19	12,752,438	20,020,912

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)
nssv18757823	4e-06	1	276268

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