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dbVar

Database of genomic structural variation

nsv7028566

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:60,659

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: 1631 SVs from 82 studies. See in: genome view

Submitted genomic22,687,378-22,748,036

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7028566	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	22,687,378	22,748,036
nsv7028566	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	23,029,842	23,090,523

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18438655	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
nssv18438655	Submitted genomic		NC_000022.11:g.226 87378_22748036del	GRCh38 (hg38)		NC_000022.11	Chr22	22,687,378	22,748,036
nssv18438655	Remapped	Good	NC_000022.10:g.230 29842_23090523del	GRCh37.p13	First Pass	NC_000022.10	Chr22	23,029,842	23,090,523

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)
nssv18438655	0.016	4069	255528

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