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dbVar

Database of genomic structural variation

nsv6887258

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:8,442

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: 122 SVs from 26 studies. See in: genome view

Submitted genomic17,813,421-17,821,862

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6887258	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000010.11	Chr10	17,813,421	17,821,862
nsv6887258	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_003315932.1	Chr10\|NW_0 03315932.1	242,212	250,653

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18334059	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
nssv18334059	Submitted genomic		NC_000010.11:g.178 13421_17821862del	GRCh38 (hg38)		NC_000010.11	Chr10	17,813,421	17,821,862
nssv18334059	Remapped	Perfect	NW_003315932.1:g.2 42212_250653del	GRCh37.p13	First Pass	NW_003315932.1	Chr10\|NW_0 03315932.1	242,212	250,653

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)
nssv18334059	4e-06	1	276228

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