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

dbVar

Database of genomic structural variation

nsv6651972

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:4,560

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: 188 SVs from 50 studies. See in: genome view

Submitted genomic54,835,339-54,839,898

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6651972	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	54,835,339	54,839,898
nsv6651972	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	55,301,012	55,305,571

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18408432	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
nssv18408432	Submitted genomic		NC_000001.11:g.548 35339_54839898del	GRCh38 (hg38)		NC_000001.11	Chr1	54,835,339	54,839,898
nssv18408432	Remapped	Perfect	NC_000001.10:g.553 01012_55305571del	GRCh37.p13	First Pass	NC_000001.10	Chr1	55,301,012	55,305,571

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)
nssv18408432	0.004	1046	253196

You are here: NCBI