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dbVar

Database of genomic structural variation

nsv5617578

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

Submitted genomic49,485,469-49,485,469

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5617578	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000003.12	Chr3	49,485,469	49,485,469
nsv5617578	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	49,522,902	49,522,902

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17137067	insertion	SAMN00000419	Sequencing	Sequence alignment	1,071

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17137067	Submitted genomic		NC_000003.12:g.494 85469_49485470ins4 42	GRCh38 (hg38)		NC_000003.12	Chr3	49,485,469	49,485,469
nssv17137067	Remapped	Perfect	NC_000003.11:g.495 22902_49522903ins4 42	GRCh37.p13	First Pass	NC_000003.11	Chr3	49,522,902	49,522,902

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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