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

dbVar

Database of genomic structural variation

nsv6907856

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:165,531

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: 469 SVs from 46 studies. See in: genome view

Submitted genomic124,539,858-124,705,388

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6907856	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	124,539,858	124,705,388
nsv6907856	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	124,409,754	124,575,284

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18343939	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
nssv18343939	Submitted genomic		NC_000011.10:g.124 539858_124705388de l	GRCh38 (hg38)		NC_000011.10	Chr11	124,539,858	124,705,388
nssv18343939	Remapped	Perfect	NC_000011.9:g.1244 09754_124575284del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,409,754	124,575,284

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)
nssv18343939	4e-06	1	276168

You are here: NCBI