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dbVar

Database of genomic structural variation

nsv6681099

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:2,554

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: 151 SVs from 40 studies. See in: genome view

Submitted genomic228,584,798-228,587,351

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6681099	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	228,584,798	228,587,351
nsv6681099	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	229,449,514	229,452,067

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18450247	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
nssv18450247	Submitted genomic		NC_000002.12:g.228 584798_228587351de l	GRCh38 (hg38)		NC_000002.12	Chr2	228,584,798	228,587,351
nssv18450247	Remapped	Perfect	NC_000002.11:g.229 449514_229452067de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	229,449,514	229,452,067

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)
nssv18450247	0.079	21115	274794

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