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

dbVar

Database of genomic structural variation

nsv6783598

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:3,810

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: 104 SVs from 21 studies. See in: genome view

Submitted genomic138,865,972-138,869,781

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6783598	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	138,865,972	138,869,781
nsv6783598	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	138,201,661	138,205,470

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18694808	duplication	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
nssv18694808	Submitted genomic		NC_000005.10:g.138 865972_138869781du p	GRCh38 (hg38)		NC_000005.10	Chr5	138,865,972	138,869,781
nssv18694808	Remapped	Perfect	NC_000005.9:g.1382 01661_138205470dup	GRCh37.p13	First Pass	NC_000005.9	Chr5	138,201,661	138,205,470

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)
nssv18694808	5.3e-05	15	274688

You are here: NCBI