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dbVar

Database of genomic structural variation

nsv5479731

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:144

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

Submitted genomic73,812,368-73,812,511

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5479731	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	73,812,368	73,812,511
nsv5479731	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	74,724,603	74,724,746

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17012100	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17012100	Submitted genomic		NC_000008.11:g.738 12368_73812511del	GRCh38 (hg38)		NC_000008.11	Chr8	73,812,368	73,812,511
nssv17012100	Remapped	Perfect	NC_000008.10:g.747 24603_74724746del	GRCh37.p13	First Pass	NC_000008.10	Chr8	74,724,603	74,724,746

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)
nssv17012100	0.002	11	6404

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