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dbVar

Database of genomic structural variation

nsv5573109

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:3,020

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: 210 SVs from 41 studies. See in: genome view

Submitted genomic224,136,551-224,139,570

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5573109	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	224,136,551	224,139,570
nsv5573109	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	224,324,253	224,327,272

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17062992	deletion	HG03065	Sequencing	Sequence alignment	3,836

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17062992	Submitted genomic		NC_000001.11:g.224 136551_224139570de lA	GRCh38 (hg38)		NC_000001.11	Chr1	224,136,551	224,139,570
nssv17062992	Remapped	Perfect	NC_000001.10:g.224 324253_224327272de lA	GRCh37.p13	First Pass	NC_000001.10	Chr1	224,324,253	224,327,272

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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