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dbVar

Database of genomic structural variation

nsv7048149

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:174,952

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: 8263 SVs from 109 studies. See in: genome view

Submitted genomic32,516,504-32,691,455

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7048149	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	32,516,504	32,691,455
nsv7048149	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	32,484,281	32,659,232

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18778606	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
nssv18778606	Submitted genomic		NC_000006.12:g.325 16504_32691455inv	GRCh38 (hg38)		NC_000006.12	Chr6	32,516,504	32,691,455
nssv18778606	Remapped	Perfect	NC_000006.11:g.324 84281_32659232inv	GRCh37.p13	First Pass	NC_000006.11	Chr6	32,484,281	32,659,232

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)
nssv18778606	0.011	2891	273266

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