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dbVar

Database of genomic structural variation

nsv6914811

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:5,900

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: 194 SVs from 22 studies. See in: genome view

Submitted genomic130,392,001-130,397,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6914811	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	130,392,001	130,397,900
nsv6914811	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	130,261,896	130,267,795

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18344371	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
nssv18344371	Submitted genomic		NC_000011.10:g.130 392001_130397900de l	GRCh38 (hg38)		NC_000011.10	Chr11	130,392,001	130,397,900
nssv18344371	Remapped	Perfect	NC_000011.9:g.1302 61896_130267795del	GRCh37.p13	First Pass	NC_000011.9	Chr11	130,261,896	130,267,795

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)
nssv18344371	2.3e-05	6	252042

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