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dbVar

Database of genomic structural variation

nsv5943643

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:79

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: 149 SVs from 32 studies. See in: genome view

Submitted genomic72,591,215-72,591,293

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5943643	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	72,591,215	72,591,293
nsv5943643	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	72,984,995	72,985,073

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17365398	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17365398	Submitted genomic		NC_000012.12:g.725 91215_72591293del	GRCh38 (hg38)		NC_000012.12	Chr12	72,591,215	72,591,293
nssv17365398	Remapped	Perfect	NC_000012.11:g.729 84995_72985073del	GRCh37.p13	First Pass	NC_000012.11	Chr12	72,984,995	72,985,073

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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