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dbVar

Database of genomic structural variation

nsv7043815

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:880

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: 273 SVs from 30 studies. See in: genome view

Submitted genomic185,197,677-185,198,556

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7043815	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	185,197,677	185,198,556
nsv7043815	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	186,118,831	186,119,710

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18774018	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
nssv18774018	Submitted genomic		NC_000004.12:g.185 197677_185198556in v	GRCh38 (hg38)		NC_000004.12	Chr4	185,197,677	185,198,556
nssv18774018	Remapped	Perfect	NC_000004.11:g.186 118831_186119710in v	GRCh37.p13	First Pass	NC_000004.11	Chr4	186,118,831	186,119,710

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)
nssv18774018	0.003	669	267566

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