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dbVar

Database of genomic structural variation

nsv5595194

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:331

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: 115 SVs from 28 studies. See in: genome view

Submitted genomic57,218,561-57,218,891

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5595194	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000020.11	Chr20	57,218,561	57,218,891
nsv5595194	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000020.10	Chr20	55,793,617	55,793,947

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17116632	deletion	SAMN00007703	Sequencing	Sequence alignment	1,054

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17116632	Submitted genomic		NC_000020.11:g.572 18561_57218891delA	GRCh38 (hg38)		NC_000020.11	Chr20	57,218,561	57,218,891
nssv17116632	Remapped	Perfect	NC_000020.10:g.557 93617_55793947delA	GRCh37.p13	First Pass	NC_000020.10	Chr20	55,793,617	55,793,947

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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