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dbVar

Database of genomic structural variation

nsv7021712

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:59

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: 68 SVs from 19 studies. See in: genome view

Submitted genomic59,153,624-59,153,682

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7021712	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	59,153,624	59,153,682
nsv7021712	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	57,728,679	57,728,737

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18434236	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
nssv18434236	Submitted genomic		NC_000020.11:g.591 53624_59153682del	GRCh38 (hg38)		NC_000020.11	Chr20	59,153,624	59,153,682
nssv18434236	Remapped	Perfect	NC_000020.10:g.577 28679_57728737del	GRCh37.p13	First Pass	NC_000020.10	Chr20	57,728,679	57,728,737

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)
nssv18434236	0.011	2714	251426

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