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

dbVar

Database of genomic structural variation

nsv6899668

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:3,700

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: 199 SVs from 56 studies. See in: genome view

Submitted genomic56,016,001-56,019,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6899668	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	56,016,001	56,019,700
nsv6899668	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	55,783,477	55,787,176

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18351633	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
nssv18351633	Submitted genomic		NC_000011.10:g.560 16001_56019700del	GRCh38 (hg38)		NC_000011.10	Chr11	56,016,001	56,019,700
nssv18351633	Remapped	Perfect	NC_000011.9:g.5578 3477_55787176del	GRCh37.p13	First Pass	NC_000011.9	Chr11	55,783,477	55,787,176

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)
nssv18351633	0.002	589	257948

You are here: NCBI