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dbVar

Database of genomic structural variation

nsv6922692

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:13,755

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: 160 SVs from 40 studies. See in: genome view

Submitted genomic28,119,609-28,133,363

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6922692	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	28,119,609	28,133,363
nsv6922692	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	28,693,746	28,707,500

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18377225	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
nssv18377225	Submitted genomic		NC_000013.11:g.281 19609_28133363del	GRCh38 (hg38)		NC_000013.11	Chr13	28,119,609	28,133,363
nssv18377225	Remapped	Perfect	NC_000013.10:g.286 93746_28707500del	GRCh37.p13	First Pass	NC_000013.10	Chr13	28,693,746	28,707,500

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)
nssv18377225	4e-06	1	273860

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