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dbVar

Database of genomic structural variation

nsv7092504

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:55

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: 235 SVs from 23 studies. See in: genome view

Submitted genomic74,420,673-74,420,727

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7092504	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	74,420,673	74,420,727
nsv7092504	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	73,640,508	73,640,562

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18658457	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
nssv18658457	Submitted genomic		NC_000023.11:g.744 20673_74420727dup	GRCh38 (hg38)		NC_000023.11	ChrX	74,420,673	74,420,727
nssv18658457	Remapped	Perfect	NC_000023.10:g.736 40508_73640562dup	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,640,508	73,640,562

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)
nssv18658457	0.011	2430	216674

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