Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv5672493

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: 379 SVs from 41 studies. See in: genome view

Submitted genomic45,924,755-45,924,755

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5672493	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	45,924,755	45,924,755
nsv5672493	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	47,344,669	47,344,669

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17136562	insertion	SAMN00801888	Sequencing	Sequence alignment	2,004

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17136562	Submitted genomic		NC_000021.9:g.4592 4755_45924756ins67	GRCh38 (hg38)		NC_000021.9	Chr21	45,924,755	45,924,755
nssv17136562	Remapped	Perfect	NC_000021.8:g.4734 4669_47344670ins67	GRCh37.p13	First Pass	NC_000021.8	Chr21	47,344,669	47,344,669

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.

You are here: NCBI