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dbVar

Database of genomic structural variation

nsv6587098

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:8,539,640

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: 19330 SVs from 116 studies. See in: genome view

Submitted genomic70,939,082-79,478,721

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6587098	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	70,939,082	79,478,721
nsv6587098	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	71,332,862	79,872,501

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18217684	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18217684	Submitted genomic		NC_000012.12:g.709 39082_79478721inv	GRCh38 (hg38)		NC_000012.12	Chr12	70,939,082	79,478,721
nssv18217684	Remapped	Perfect	NC_000012.11:g.713 32862_79872501inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	71,332,862	79,872,501

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)
nssv18217684	<0.001	1	39304

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