Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6910047

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:15,894

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: 118 SVs from 39 studies. See in: genome view

Submitted genomic13,914,535-13,930,428

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6910047	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	13,914,535	13,930,428
nsv6910047	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	13,936,082	13,951,975

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18344735	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
nssv18344735	Submitted genomic		NC_000011.10:g.139 14535_13930428del	GRCh38 (hg38)		NC_000011.10	Chr11	13,914,535	13,930,428
nssv18344735	Remapped	Perfect	NC_000011.9:g.1393 6082_13951975del	GRCh37.p13	First Pass	NC_000011.9	Chr11	13,936,082	13,951,975

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)
nssv18344735	1.4e-05	4	276252

You are here: NCBI