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dbVar

Database of genomic structural variation

nsv7048131

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:276,988

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: 866 SVs from 78 studies. See in: genome view

Submitted genomic109,124,151-109,401,138

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7048131	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	109,124,151	109,401,138
nsv7048131	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	108,459,852	108,736,839

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18774397	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
nssv18774397	Submitted genomic		NC_000005.10:g.109 124151_109401138in v	GRCh38 (hg38)		NC_000005.10	Chr5	109,124,151	109,401,138
nssv18774397	Remapped	Perfect	NC_000005.9:g.1084 59852_108736839inv	GRCh37.p13	First Pass	NC_000005.9	Chr5	108,459,852	108,736,839

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)
nssv18774397	4e-06	1	276268

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