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dbVar

Database of genomic structural variation

nsv5644564

Organism: Homo sapiens

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

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

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: 100 SVs from 25 studies. See in: genome view

Submitted genomic100,294,713-100,294,713

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5644564	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	100,294,713	100,294,713
nsv5644564	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	100,688,491	100,688,491

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17077028	insertion	HG03125	Sequencing	Sequence alignment	5,031

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17077028	Submitted genomic		NC_000012.12:g.100 294713_100294714in s126	GRCh38 (hg38)		NC_000012.12	Chr12	100,294,713	100,294,713
nssv17077028	Remapped	Perfect	NC_000012.11:g.100 688491_100688492in s126	GRCh37.p13	First Pass	NC_000012.11	Chr12	100,688,491	100,688,491

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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