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dbVar

Database of genomic structural variation

nsv5958181

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:445

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: 511 SVs from 42 studies. See in: genome view

Submitted genomic50,511,101-50,511,545

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5958181	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	50,511,101	50,511,545
nsv5958181	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	50,949,530	50,949,974

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17405551	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17405551	Submitted genomic		NC_000022.11:g.505 11101_50511545del	GRCh38 (hg38)		NC_000022.11	Chr22	50,511,101	50,511,545
nssv17405551	Remapped	Perfect	NC_000022.10:g.509 49530_50949974del	GRCh37.p13	First Pass	NC_000022.10	Chr22	50,949,530	50,949,974

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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