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dbVar

Database of genomic structural variation

nsv5966296

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:6,178

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: 135 SVs from 30 studies. See in: genome view

Submitted genomic51,839,750-51,845,927

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5966296	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	51,839,750	51,845,927
nsv5966296	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	50,456,289	50,462,466

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17406706	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17406706	Submitted genomic		NC_000020.11:g.518 39750_51845927del	GRCh38 (hg38)		NC_000020.11	Chr20	51,839,750	51,845,927
nssv17406706	Remapped	Perfect	NC_000020.10:g.504 56289_50462466del	GRCh37.p13	First Pass	NC_000020.10	Chr20	50,456,289	50,462,466

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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