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dbVar

Database of genomic structural variation

nsv7046412

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:3,031

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: 83 SVs from 17 studies. See in: genome view

Submitted genomic146,212,866-146,215,896

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7046412	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	146,212,866	146,215,896
nsv7046412	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	145,592,429	145,595,459

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18775168	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
nssv18775168	Submitted genomic		NC_000005.10:g.146 212866_146215896in v	GRCh38 (hg38)		NC_000005.10	Chr5	146,212,866	146,215,896
nssv18775168	Remapped	Perfect	NC_000005.9:g.1455 92429_145595459inv	GRCh37.p13	First Pass	NC_000005.9	Chr5	145,592,429	145,595,459

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)
nssv18775168	5e-05	14	271928

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