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dbVar

Database of genomic structural variation

nsv5586269

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:301

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: 131 SVs from 40 studies. See in: genome view

Submitted genomic100,282,181-100,282,481

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5586269	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	100,282,181	100,282,481
nsv5586269	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	100,675,959	100,676,259

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17077025	deletion	NA24385	Sequencing	Sequence alignment	2,573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17077025	Submitted genomic		NC_000012.12:g.100 282181_100282481de lT	GRCh38 (hg38)		NC_000012.12	Chr12	100,282,181	100,282,481
nssv17077025	Remapped	Perfect	NC_000012.11:g.100 675959_100676259de lT	GRCh37.p13	First Pass	NC_000012.11	Chr12	100,675,959	100,676,259

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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