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dbVar

Database of genomic structural variation

nsv5604412

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:65

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: 514 SVs from 45 studies. See in: genome view

Submitted genomic679,958-680,022

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5604412	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000016.10	Chr16	679,958	680,022
nsv5604412	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	729,958	730,022

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17083033	deletion	HG02011	Sequencing	Sequence alignment	2,906

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17083033	Submitted genomic		NC_000016.10:g.679 958_680022delG	GRCh38 (hg38)		NC_000016.10	Chr16	679,958	680,022
nssv17083033	Remapped	Perfect	NC_000016.9:g.7299 58_730022delG	GRCh37.p13	First Pass	NC_000016.9	Chr16	729,958	730,022

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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