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dbVar

Database of genomic structural variation

nsv7092505

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:54

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 genomic74,420,684-74,420,737

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7092505	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	74,420,684	74,420,737
nsv7092505	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	73,640,519	73,640,572

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18453451	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
nssv18453451	Submitted genomic		NC_000023.11:g.744 20684_74420737del	GRCh38 (hg38)		NC_000023.11	ChrX	74,420,684	74,420,737
nssv18453451	Remapped	Perfect	NC_000023.10:g.736 40519_73640572del	GRCh37.p13	First Pass	NC_000023.10	ChrX	73,640,519	73,640,572

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)
nssv18453451	0.005	1160	216660

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