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dbVar

Database of genomic structural variation

nsv5599328

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:315

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: 214 SVs from 39 studies. See in: genome view

Submitted genomic44,306,277-44,306,591

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5599328	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	44,306,277	44,306,591
nsv5599328	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	44,702,157	44,702,471

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17119872	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
nssv17119872	Submitted genomic		NC_000022.11:g.443 06277_44306591delG	GRCh38 (hg38)		NC_000022.11	Chr22	44,306,277	44,306,591
nssv17119872	Remapped	Perfect	NC_000022.10:g.447 02157_44702471delG	GRCh37.p13	First Pass	NC_000022.10	Chr22	44,702,157	44,702,471

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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