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dbVar

Database of genomic structural variation

nsv5630530

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: 119 SVs from 28 studies. See in: genome view

Submitted genomic130,293,638-130,293,638

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5630530	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	130,293,638	130,293,638
nsv5630530	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	130,614,783	130,614,783

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17153907	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
nssv17153907	Submitted genomic		NC_000006.12:g.130 293638_130293639in s296	GRCh38 (hg38)		NC_000006.12	Chr6	130,293,638	130,293,638
nssv17153907	Remapped	Perfect	NC_000006.11:g.130 614783_130614784in s296	GRCh37.p13	First Pass	NC_000006.11	Chr6	130,614,783	130,614,783

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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