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dbVar

Database of genomic structural variation

nsv7019088

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:922,527

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: 3753 SVs from 94 studies. See in: genome view

Submitted genomic44,553,219-45,475,745

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7019088	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	44,553,219	45,475,745
nsv7019088	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	44,949,099	45,871,626

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18652602	duplication	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
nssv18652602	Submitted genomic		NC_000022.11:g.445 53219_45475745dup	GRCh38 (hg38)		NC_000022.11	Chr22	44,553,219	45,475,745
nssv18652602	Remapped	Perfect	NC_000022.10:g.449 49099_45871626dup	GRCh37.p13	First Pass	NC_000022.10	Chr22	44,949,099	45,871,626

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)
nssv18652602	4e-06	1	275558

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