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dbVar

Database of genomic structural variation

nsv6778092

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:71,700

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: 2768 SVs from 111 studies. See in: genome view

Submitted genomic29,883,201-29,954,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6778092	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	29,883,201	29,954,900
nsv6778092	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	29,850,978	29,922,677

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18524512	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
nssv18524512	Submitted genomic		NC_000006.12:g.298 83201_29954900del	GRCh38 (hg38)		NC_000006.12	Chr6	29,883,201	29,954,900
nssv18524512	Remapped	Perfect	NC_000006.11:g.298 50978_29922677del	GRCh37.p13	First Pass	NC_000006.11	Chr6	29,850,978	29,922,677

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)
nssv18524512	0.134	33935	253744

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