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dbVar

Database of genomic structural variation

nsv5423635

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:68

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: 211 SVs from 47 studies. See in: genome view

Submitted genomic25,357,610-25,357,677

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5423635	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	25,357,610	25,357,677
nsv5423635	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	25,684,101	25,684,168

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16900204	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16900204	Submitted genomic		NC_000001.11:g.253 57610_25357677del	GRCh38 (hg38)		NC_000001.11	Chr1	25,357,610	25,357,677
nssv16900204	Remapped	Perfect	NC_000001.10:g.256 84101_25684168del	GRCh37.p13	First Pass	NC_000001.10	Chr1	25,684,101	25,684,168

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)
nssv16900204	<0.001	1	6404

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