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dbVar

Database of genomic structural variation

nsv5966225

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:8,080

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: 423 SVs from 61 studies. See in: genome view

Submitted genomic42,630,377-42,638,456

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5966225	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	42,630,377	42,638,456
nsv5966225	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	41,259,017	41,267,096

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17393314	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17393314	Submitted genomic		NC_000020.11:g.426 30377_42638456del	GRCh38 (hg38)		NC_000020.11	Chr20	42,630,377	42,638,456
nssv17393314	Remapped	Perfect	NC_000020.10:g.412 59017_41267096del	GRCh37.p13	First Pass	NC_000020.10	Chr20	41,259,017	41,267,096

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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