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dbVar

Database of genomic structural variation

nsv7077330

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:9,163,602

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: 27235 SVs from 124 studies. See in: genome view

Submitted genomic20,333,755-29,497,356

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7077330	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	20,333,755	29,497,356
nsv7077330	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	21,706,067	30,869,676

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18764908	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
nssv18764908	Submitted genomic		NC_000021.9:g.2033 3755_29497356inv	GRCh38 (hg38)		NC_000021.9	Chr21	20,333,755	29,497,356
nssv18764908	Remapped	Perfect	NC_000021.8:g.2170 6067_30869676inv	GRCh37.p13	First Pass	NC_000021.8	Chr21	21,706,067	30,869,676

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)
nssv18764908	4e-06	1	276268

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