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dbVar

Database of genomic structural variation

nsv5954410

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:2,470

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

Submitted genomic43,638,503-43,640,972

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5954410	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	43,638,503	43,640,972
nsv5954410	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	42,267,143	42,269,612

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17395471	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17395471	Submitted genomic		NC_000020.11:g.436 38503_43640972del	GRCh38 (hg38)		NC_000020.11	Chr20	43,638,503	43,640,972
nssv17395471	Remapped	Perfect	NC_000020.10:g.422 67143_42269612del	GRCh37.p13	First Pass	NC_000020.10	Chr20	42,267,143	42,269,612

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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