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dbVar

Database of genomic structural variation

nsv5594951

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6,030

Publication(s):Ebert et al. 2021

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: 396 SVs from 59 studies. See in: genome view

Submitted genomic45,376,748-45,382,777

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5594951	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	45,376,748	45,382,777
nsv5594951	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	45,950,883	45,956,912

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17091256	deletion	HG02818	Sequencing	Sequence alignment	3,473

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17091256	Submitted genomic		NC_000013.11:g.453 76748_45382777delC	GRCh38 (hg38)		NC_000013.11	Chr13	45,376,748	45,382,777
nssv17091256	Remapped	Perfect	NC_000013.10:g.459 50883_45956912delC	GRCh37.p13	First Pass	NC_000013.10	Chr13	45,950,883	45,956,912

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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