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dbVar

Database of genomic structural variation

nsv5963728

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:228,578

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: 854 SVs from 76 studies. See in: genome view

Submitted genomic43,718,551-43,947,128

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5963728	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	43,718,551	43,947,128
nsv5963728	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	44,114,431	44,343,008

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17396783	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17396783	Submitted genomic		NC_000022.11:g.437 18551_43947128del	GRCh38 (hg38)		NC_000022.11	Chr22	43,718,551	43,947,128
nssv17396783	Remapped	Perfect	NC_000022.10:g.441 14431_44343008del	GRCh37.p13	First Pass	NC_000022.10	Chr22	44,114,431	44,343,008

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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