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dbVar

Database of genomic structural variation

nsv5851591

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:3,142

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: 120 SVs from 35 studies. See in: genome view

Submitted genomic50,378,775-50,381,916

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5851591	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	50,378,775	50,381,916
nsv5851591	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	50,772,558	50,775,699

Variant Call Information

Variant Call ID	Type	Method	Analysis	Copy number
nssv17452978	copy number variation	Sequencing	Sequence alignment	2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17452978	Submitted genomic		GRCh38 (hg38)		NC_000012.12	Chr12	50,378,775	50,381,916
nssv17452978	Remapped	Perfect	GRCh37.p13	First Pass	NC_000012.11	Chr12	50,772,558	50,775,699

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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