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

dbVar

Database of genomic structural variation

nsv6916387

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:58,520

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: 421 SVs from 58 studies. See in: genome view

Submitted genomic124,202,917-124,261,436

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6916387	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	124,202,917	124,261,436
nsv6916387	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	124,073,624	124,131,332

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18343906	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
nssv18343906	Submitted genomic		NC_000011.10:g.124 202917_124261436de l	GRCh38 (hg38)		NC_000011.10	Chr11	124,202,917	124,261,436
nssv18343906	Remapped	Good	NC_000011.9:g.1240 73624_124131332del	GRCh37.p13	First Pass	NC_000011.9	Chr11	124,073,624	124,131,332

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)
nssv18343906	4e-06	1	275004

You are here: NCBI