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

dbVar

Database of genomic structural variation

nsv6753429

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:12,294

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: 163 SVs from 34 studies. See in: genome view

Submitted genomic86,810,805-86,823,098

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6753429	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	86,810,805	86,823,098
nsv6753429	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	87,731,958	87,744,251

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18501020	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
nssv18501020	Submitted genomic		NC_000004.12:g.868 10805_86823098del	GRCh38 (hg38)		NC_000004.12	Chr4	86,810,805	86,823,098
nssv18501020	Remapped	Perfect	NC_000004.11:g.877 31958_87744251del	GRCh37.p13	First Pass	NC_000004.11	Chr4	87,731,958	87,744,251

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)
nssv18501020	7e-06	2	276216

You are here: NCBI