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dbVar

Database of genomic structural variation

nsv7073927

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:2,426,871

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: 5925 SVs from 113 studies. See in: genome view

Submitted genomic70,630,458-73,057,328

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7073927	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	70,630,458	73,057,328
nsv7073927	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	71,542,693	73,969,563

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18785012	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
nssv18785012	Submitted genomic		NC_000008.11:g.706 30458_73057328inv	GRCh38 (hg38)		NC_000008.11	Chr8	70,630,458	73,057,328
nssv18785012	Remapped	Perfect	NC_000008.10:g.715 42693_73969563inv	GRCh37.p13	First Pass	NC_000008.10	Chr8	71,542,693	73,969,563

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)
nssv18785012	0.001	301	267590

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