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dbVar

Database of genomic structural variation

nsv5949646

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:135

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: 208 SVs from 20 studies. See in: genome view

Submitted genomic45,543,041-45,543,175

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5949646	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	45,543,041	45,543,175
nsv5949646	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	45,938,921	45,939,055

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17403507	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17403507	Submitted genomic		NC_000022.11:g.455 43041_45543175del	GRCh38 (hg38)		NC_000022.11	Chr22	45,543,041	45,543,175
nssv17403507	Remapped	Perfect	NC_000022.10:g.459 38921_45939055del	GRCh37.p13	First Pass	NC_000022.10	Chr22	45,938,921	45,939,055

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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