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dbVar

Database of genomic structural variation

nsv6943717

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:113,813

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: 518 SVs from 65 studies. See in: genome view

Submitted genomic88,555,018-88,668,830

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6943717	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	88,555,018	88,668,830
nsv6943717	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	89,207,273	89,321,084

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18382182	deletion	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
nssv18382182	Submitted genomic		NC_000013.11:g.885 55018_88668830del	GRCh38 (hg38)		NC_000013.11	Chr13	88,555,018	88,668,830
nssv18382182	Remapped	Good	NC_000013.10:g.892 07273_89321084del	GRCh37.p13	First Pass	NC_000013.10	Chr13	89,207,273	89,321,084

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)
nssv18382182	5.7e-05	16	275552

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