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

dbVar

Database of genomic structural variation

nsv6748148

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:3,253

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: 267 SVs from 31 studies. See in: genome view

Submitted genomic184,801,542-184,804,794

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6748148	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	184,801,542	184,804,794
nsv6748148	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	185,722,696	185,725,948

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18493178	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
nssv18493178	Submitted genomic		NC_000004.12:g.184 801542_184804794de l	GRCh38 (hg38)		NC_000004.12	Chr4	184,801,542	184,804,794
nssv18493178	Remapped	Perfect	NC_000004.11:g.185 722696_185725948de l	GRCh37.p13	First Pass	NC_000004.11	Chr4	185,722,696	185,725,948

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)
nssv18493178	4e-06	1	275980

You are here: NCBI