Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6998199

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:2,426

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: 177 SVs from 16 studies. See in: genome view

Submitted genomic54,927,483-54,929,908

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6998199	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	54,927,483	54,929,908
nsv6998199	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	52,594,714	52,597,139

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18418765	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
nssv18418765	Submitted genomic		NC_000018.10:g.549 27483_54929908del	GRCh38 (hg38)		NC_000018.10	Chr18	54,927,483	54,929,908
nssv18418765	Remapped	Perfect	NC_000018.9:g.5259 4714_52597139del	GRCh37.p13	First Pass	NC_000018.9	Chr18	52,594,714	52,597,139

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)
nssv18418765	7e-06	0	275902

You are here: NCBI