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

dbVar

Database of genomic structural variation

nsv6659224

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:71

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: 109 SVs from 23 studies. See in: genome view

Submitted genomic55,991,978-55,992,048

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6659224	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	55,991,978	55,992,048
nsv6659224	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	56,219,113	56,219,183

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18466888	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
nssv18466888	Submitted genomic		NC_000002.12:g.559 91978_55992048del	GRCh38 (hg38)		NC_000002.12	Chr2	55,991,978	55,992,048
nssv18466888	Remapped	Perfect	NC_000002.11:g.562 19113_56219183del	GRCh37.p13	First Pass	NC_000002.11	Chr2	56,219,113	56,219,183

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)
nssv18466888	0.008	1764	242564

You are here: NCBI