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dbVar

Database of genomic structural variation

nsv5430886

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:91

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: 104 SVs from 17 studies. See in: genome view

Submitted genomic93,192,116-93,192,206

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5430886	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	93,192,116	93,192,206
nsv5430886	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	93,657,673	93,657,763

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16906686	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16906686	Submitted genomic		NC_000001.11:g.931 92116_93192206del	GRCh38 (hg38)		NC_000001.11	Chr1	93,192,116	93,192,206
nssv16906686	Remapped	Perfect	NC_000001.10:g.936 57673_93657763del	GRCh37.p13	First Pass	NC_000001.10	Chr1	93,657,673	93,657,763

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)
nssv16906686	<0.001	1	6404

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