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dbVar

Database of genomic structural variation

nsv5669979

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: 403 SVs from 42 studies. See in: genome view

Submitted genomic46,293,436-46,293,436

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5669979	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	46,293,436	46,293,436
nsv5669979	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	47,713,350	47,713,350

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17125992	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
nssv17125992	Submitted genomic		NC_000021.9:g.4629 3436_46293437ins74 1	GRCh38 (hg38)		NC_000021.9	Chr21	46,293,436	46,293,436
nssv17125992	Remapped	Perfect	NC_000021.8:g.4771 3350_47713351ins74 1	GRCh37.p13	First Pass	NC_000021.8	Chr21	47,713,350	47,713,350

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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