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dbVar

Database of genomic structural variation

nsv7050362

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:289,070

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: 3682 SVs from 112 studies. See in: genome view

Submitted genomic195,649,879-195,938,948

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7050362	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	195,649,879	195,938,948
nsv7050362	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	195,376,750	195,665,819

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18771417	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
nssv18771417	Submitted genomic		NC_000003.12:g.195 649879_195938948in v	GRCh38 (hg38)		NC_000003.12	Chr3	195,649,879	195,938,948
nssv18771417	Remapped	Perfect	NC_000003.11:g.195 376750_195665819in v	GRCh37.p13	First Pass	NC_000003.11	Chr3	195,376,750	195,665,819

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)
nssv18771417	0.01	2791	269414

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