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dbVar

Database of genomic structural variation

nsv7022820

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:145,220

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: 865 SVs from 71 studies. See in: genome view

Submitted genomic44,750,477-44,895,696

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7022820	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	44,750,477	44,895,696
nsv7022820	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	46,223,847	46,315,611

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18437980	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
nssv18437980	Submitted genomic		NC_000021.9:g.4475 0477_44895696del	GRCh38 (hg38)		NC_000021.9	Chr21	44,750,477	44,895,696
nssv18437980	Remapped	Pass	NC_000021.8:g.4622 3847_46315611del	GRCh37.p13	First Pass	NC_000021.8	Chr21	46,223,847	46,315,611

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)
nssv18437980	4e-06	1	276192

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