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dbVar

Database of genomic structural variation

nsv5540702

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,548

Publication(s):Byrska-Bishop et al. 2022

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: 179 SVs from 38 studies. See in: genome view

Submitted genomic36,270,315-36,271,862

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5540702	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	36,270,315	36,271,862
nsv5540702	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	37,642,613	37,644,160

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17726757	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17726757	Submitted genomic		NC_000021.9:g.3627 0315_36271862del	GRCh38 (hg38)		NC_000021.9	Chr21	36,270,315	36,271,862
nssv17726757	Remapped	Perfect	NC_000021.8:g.3764 2613_37644160del	GRCh37.p13	First Pass	NC_000021.8	Chr21	37,642,613	37,644,160

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)
nssv17726757	0.01	67	6404

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