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dbVar

Database of genomic structural variation

nsv5894479

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:205

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: 147 SVs from 24 studies. See in: genome view

Submitted genomic221,424,954-221,425,158

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5894479	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	221,424,954	221,425,158
nsv5894479	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	222,289,674	222,289,878

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17392033	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17392033	Submitted genomic		NC_000002.12:g.221 424954_221425158de l	GRCh38 (hg38)		NC_000002.12	Chr2	221,424,954	221,425,158
nssv17392033	Remapped	Perfect	NC_000002.11:g.222 289674_222289878de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	222,289,674	222,289,878

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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