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dbVar

Database of genomic structural variation

nsv7084118

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:22

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

Submitted genomic134,556,417-134,556,438

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7084118	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	134,556,417	134,556,438
nsv7084118	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	133,690,447	133,690,468

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18452072	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
nssv18452072	Submitted genomic		NC_000023.11:g.134 556417_134556438de l	GRCh38 (hg38)		NC_000023.11	ChrX	134,556,417	134,556,438
nssv18452072	Remapped	Perfect	NC_000023.10:g.133 690447_133690468de l	GRCh37.p13	First Pass	NC_000023.10	ChrX	133,690,447	133,690,468

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)
nssv18452072	0.043	9410	216675

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