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dbVar

Database of genomic structural variation

nsv5667018

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

Submitted genomic46,184,564-46,184,564

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5667018	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000021.9	Chr21	46,184,564	46,184,564
nsv5667018	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000021.8	Chr21	47,604,478	47,604,478

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17129583	insertion	SAMN00001695	Sequencing	Sequence alignment	6,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17129583	Submitted genomic		NC_000021.9:g.4618 4564_46184565ins11 3	GRCh38 (hg38)		NC_000021.9	Chr21	46,184,564	46,184,564
nssv17129583	Remapped	Perfect	NC_000021.8:g.4760 4478_47604479ins11 3	GRCh37.p13	First Pass	NC_000021.8	Chr21	47,604,478	47,604,478

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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