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dbVar

Database of genomic structural variation

nsv5542729

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:52

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: 157 SVs from 29 studies. See in: genome view

Submitted genomic33,563,398-33,563,449

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5542729	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	33,563,398	33,563,449
nsv5542729	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	34,935,704	34,935,755

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17726672	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17726672	Submitted genomic		NC_000021.9:g.3356 3398_33563449del	GRCh38 (hg38)		NC_000021.9	Chr21	33,563,398	33,563,449
nssv17726672	Remapped	Perfect	NC_000021.8:g.3493 5704_34935755del	GRCh37.p13	First Pass	NC_000021.8	Chr21	34,935,704	34,935,755

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)
nssv17726672	0.169	1076	6380

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