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dbVar

Database of genomic structural variation

nsv7045289

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:210,796

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: 792 SVs from 66 studies. See in: genome view

Submitted genomic231,331,222-231,542,017

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7045289	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	231,331,222	231,542,017
nsv7045289	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	232,195,934	232,406,728

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18767721	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
nssv18767721	Submitted genomic		NC_000002.12:g.231 331222_231542017in v	GRCh38 (hg38)		NC_000002.12	Chr2	231,331,222	231,542,017
nssv18767721	Remapped	Perfect	NC_000002.11:g.232 195934_232406728in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	232,195,934	232,406,728

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)
nssv18767721	4e-06	1	276268

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