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

dbVar

Database of genomic structural variation

nsv6794342

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:8,300

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

Submitted genomic148,483,301-148,491,600

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6794342	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	148,483,301	148,491,600
nsv6794342	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	147,862,864	147,871,163

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18506449	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
nssv18506449	Submitted genomic		NC_000005.10:g.148 483301_148491600de l	GRCh38 (hg38)		NC_000005.10	Chr5	148,483,301	148,491,600
nssv18506449	Remapped	Perfect	NC_000005.9:g.1478 62864_147871163del	GRCh37.p13	First Pass	NC_000005.9	Chr5	147,862,864	147,871,163

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)
nssv18506449	4e-06	1	275412

You are here: NCBI