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dbVar

Database of genomic structural variation

nsv7063686

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:830,419

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: 2296 SVs from 84 studies. See in: genome view

Submitted genomic68,612,002-69,442,420

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7063686	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	68,612,002	69,442,420
nsv7063686	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	69,005,782	69,836,200

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18752762	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
nssv18752762	Submitted genomic		NC_000012.12:g.686 12002_69442420inv	GRCh38 (hg38)		NC_000012.12	Chr12	68,612,002	69,442,420
nssv18752762	Remapped	Perfect	NC_000012.11:g.690 05782_69836200inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	69,005,782	69,836,200

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)
nssv18752762	8.6e-05	24	273798

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