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dbVar

Database of genomic structural variation

nsv6818312

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:372,000

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: 1505 SVs from 93 studies. See in: genome view

Submitted genomic100,547,001-100,919,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6818312	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	100,547,001	100,919,000
nsv6818312	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	100,144,624	100,516,620

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18716826	duplication	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
nssv18716826	Submitted genomic		NC_000007.14:g.100 547001_100919000du p	GRCh38 (hg38)		NC_000007.14	Chr7	100,547,001	100,919,000
nssv18716826	Remapped	Good	NC_000007.13:g.100 144624_100516620du p	GRCh37.p13	First Pass	NC_000007.13	Chr7	100,144,624	100,516,620

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)
nssv18716826	7e-06	2	273862

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