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

dbVar

Database of genomic structural variation

nsv7028180

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:50

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: 160 SVs from 35 studies. See in: genome view

Submitted genomic31,658,036-31,658,085

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7028180	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	31,658,036	31,658,085
nsv7028180	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	33,030,349	33,030,398

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18436227	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
nssv18436227	Submitted genomic		NC_000021.9:g.3165 8036_31658085del	GRCh38 (hg38)		NC_000021.9	Chr21	31,658,036	31,658,085
nssv18436227	Remapped	Perfect	NC_000021.8:g.3303 0349_33030398del	GRCh37.p13	First Pass	NC_000021.8	Chr21	33,030,349	33,030,398

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)
nssv18436227	0.138	35015	250826

You are here: NCBI