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dbVar

Database of genomic structural variation

nsv6722609

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:341

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: 77 SVs from 20 studies. See in: genome view

Submitted genomic42,084,462-42,084,802

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6722609	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	42,084,462	42,084,802
nsv6722609	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	42,086,479	42,086,819

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18690126	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
nssv18690126	Submitted genomic		NC_000004.12:g.420 84462_42084802dup	GRCh38 (hg38)		NC_000004.12	Chr4	42,084,462	42,084,802
nssv18690126	Remapped	Perfect	NC_000004.11:g.420 86479_42086819dup	GRCh37.p13	First Pass	NC_000004.11	Chr4	42,086,479	42,086,819

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)
nssv18690126	0.001	336	223078

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