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

dbVar

Database of genomic structural variation

nsv6673619

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:127,359

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: 462 SVs from 58 studies. See in: genome view

Submitted genomic228,415,391-228,542,749

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6673619	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	228,415,391	228,542,749
nsv6673619	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	228,603,092	228,730,450

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18609421	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
nssv18609421	Submitted genomic		NC_000001.11:g.228 415391_228542749du p	GRCh38 (hg38)		NC_000001.11	Chr1	228,415,391	228,542,749
nssv18609421	Remapped	Perfect	NC_000001.10:g.228 603092_228730450du p	GRCh37.p13	First Pass	NC_000001.10	Chr1	228,603,092	228,730,450

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)
nssv18609421	4e-06	1	274000

You are here: NCBI