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dbVar

Database of genomic structural variation

nsv5431898

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:1,902

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: 116 SVs from 31 studies. See in: genome view

Submitted genomic32,088,772-32,090,673

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5431898	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	32,088,772	32,090,673
nsv5431898	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	32,554,373	32,556,274

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16901366	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16901366	Submitted genomic		NC_000001.11:g.320 88772_32090673del	GRCh38 (hg38)		NC_000001.11	Chr1	32,088,772	32,090,673
nssv16901366	Remapped	Perfect	NC_000001.10:g.325 54373_32556274del	GRCh37.p13	First Pass	NC_000001.10	Chr1	32,554,373	32,556,274

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)
nssv16901366	0.003	20	6404

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