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dbVar

Database of genomic structural variation

nsv5654979

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: 133 SVs from 38 studies. See in: genome view

Submitted genomic109,209,972-109,209,972

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5654979	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	109,209,972	109,209,972
nsv5654979	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	109,647,777	109,647,777

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17077392	insertion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17077392	Submitted genomic		NC_000012.12:g.109 209972_109209973in s341	GRCh38 (hg38)		NC_000012.12	Chr12	109,209,972	109,209,972
nssv17077392	Remapped	Perfect	NC_000012.11:g.109 647777_109647778in s341	GRCh37.p13	First Pass	NC_000012.11	Chr12	109,647,777	109,647,777

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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