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dbVar

Database of genomic structural variation

nsv7041140

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:109,087

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: 360 SVs from 44 studies. See in: genome view

Submitted genomic63,514,069-63,623,155

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7041140	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	63,514,069	63,623,155
nsv7041140	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	63,979,740	64,088,826

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18761678	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
nssv18761678	Submitted genomic		NC_000001.11:g.635 14069_63623155inv	GRCh38 (hg38)		NC_000001.11	Chr1	63,514,069	63,623,155
nssv18761678	Remapped	Perfect	NC_000001.10:g.639 79740_64088826inv	GRCh37.p13	First Pass	NC_000001.10	Chr1	63,979,740	64,088,826

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)
nssv18761678	1.1e-05	3	274914

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