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

dbVar

Database of genomic structural variation

nsv7083249

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:44

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: 244 SVs from 18 studies. See in: genome view

Submitted genomic120,429,290-120,429,333

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7083249	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	120,429,290	120,429,333
nsv7083249	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	119,563,145	119,563,188

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18457765	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
nssv18457765	Submitted genomic		NC_000023.11:g.120 429290_120429333de l	GRCh38 (hg38)		NC_000023.11	ChrX	120,429,290	120,429,333
nssv18457765	Remapped	Perfect	NC_000023.10:g.119 563145_119563188de l	GRCh37.p13	First Pass	NC_000023.10	ChrX	119,563,145	119,563,188

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)
nssv18457765	0.074	16064	216677

You are here: NCBI