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

dbVar

Database of genomic structural variation

nsv7089902

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:120,800

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: 376 SVs from 41 studies. See in: genome view

Submitted genomic84,109,501-84,230,300

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7089902	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	84,109,501	84,230,300
nsv7089902	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	83,364,509	83,485,308

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18660294	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
nssv18660294	Submitted genomic		NC_000023.11:g.841 09501_84230300dup	GRCh38 (hg38)		NC_000023.11	ChrX	84,109,501	84,230,300
nssv18660294	Remapped	Perfect	NC_000023.10:g.833 64509_83485308dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	83,364,509	83,485,308

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)
nssv18660294	1.8e-05	4	222222

You are here: NCBI