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dbVar

Database of genomic structural variation

nsv7054196

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:1,557,293

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: 3069 SVs from 80 studies. See in: genome view

Submitted genomic203,378,155-204,935,447

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7054196	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	203,378,155	204,935,447
nsv7054196	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	204,242,878	205,800,170

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18766766	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
nssv18766766	Submitted genomic		NC_000002.12:g.203 378155_204935447in v	GRCh38 (hg38)		NC_000002.12	Chr2	203,378,155	204,935,447
nssv18766766	Remapped	Perfect	NC_000002.11:g.204 242878_205800170in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	204,242,878	205,800,170

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)
nssv18766766	0.005	1354	267600

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