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dbVar

Database of genomic structural variation

nsv7064008

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:3,509,573

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: 13672 SVs from 126 studies. See in: genome view

Submitted genomic6,716,253-10,225,825

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7064008	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	6,716,253	10,225,825
nsv7064008	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	6,825,419	10,378,424

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18752750	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
nssv18752750	Submitted genomic		NC_000012.12:g.671 6253_10225825inv	GRCh38 (hg38)		NC_000012.12	Chr12	6,716,253	10,225,825
nssv18752750	Remapped	Good	NC_000012.11:g.682 5419_10378424inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	6,825,419	10,378,424

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)
nssv18752750	0.003	677	272350

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