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dbVar

Database of genomic structural variation

nsv5958830

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:65

Publication(s):Almarri et al. 2020

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: 500 SVs from 38 studies. See in: genome view

Submitted genomic50,521,319-50,521,383

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5958830	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	50,521,319	50,521,383
nsv5958830	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	50,959,748	50,959,812

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17400986	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17400986	Submitted genomic		NC_000022.11:g.505 21319_50521383del	GRCh38 (hg38)		NC_000022.11	Chr22	50,521,319	50,521,383
nssv17400986	Remapped	Perfect	NC_000022.10:g.509 59748_50959812del	GRCh37.p13	First Pass	NC_000022.10	Chr22	50,959,748	50,959,812

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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