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dbVar

Database of genomic structural variation

nsv5576552

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:236

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: 124 SVs from 30 studies. See in: genome view

Submitted genomic20,445,896-20,446,131

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5576552	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	20,445,896	20,446,131
nsv5576552	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	20,645,657	20,645,892

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17111184	deletion	HG03486	Sequencing	Sequence alignment	4,355

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17111184	Submitted genomic		NC_000002.12:g.204 45896_20446131delA	GRCh38 (hg38)		NC_000002.12	Chr2	20,445,896	20,446,131
nssv17111184	Remapped	Perfect	NC_000002.11:g.206 45657_20645892delA	GRCh37.p13	First Pass	NC_000002.11	Chr2	20,645,657	20,645,892

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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