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dbVar

Database of genomic structural variation

nsv7069974

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:7,629

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: 108 SVs from 31 studies. See in: genome view

Submitted genomic51,340,738-51,348,366

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7069974	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	51,340,738	51,348,366
nsv7069974	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	51,734,522	51,742,150

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18751908	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
nssv18751908	Submitted genomic		NC_000012.12:g.513 40738_51348366inv	GRCh38 (hg38)		NC_000012.12	Chr12	51,340,738	51,348,366
nssv18751908	Remapped	Perfect	NC_000012.11:g.517 34522_51742150inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	51,734,522	51,742,150

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)
nssv18751908	4e-06	1	276268

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