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dbVar

Database of genomic structural variation

nsv7049425

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:99,756

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: 654 SVs from 77 studies. See in: genome view

Submitted genomic140,415,784-140,515,539

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7049425	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	140,415,784	140,515,539
nsv7049425	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	140,115,584	140,215,339

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18781337	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
nssv18781337	Submitted genomic		NC_000007.14:g.140 415784_140515539in v	GRCh38 (hg38)		NC_000007.14	Chr7	140,415,784	140,515,539
nssv18781337	Remapped	Perfect	NC_000007.13:g.140 115584_140215339in v	GRCh37.p13	First Pass	NC_000007.13	Chr7	140,115,584	140,215,339

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)
nssv18781337	7e-06	2	276242

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