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dbVar

Database of genomic structural variation

nsv5599760

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:117

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: 176 SVs from 35 studies. See in: genome view

Submitted genomic21,928,337-21,928,453

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5599760	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	21,928,337	21,928,453
nsv5599760	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	22,081,271	22,081,387

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17079464	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17079464	Submitted genomic		NC_000012.12:g.219 28337_21928453delA	GRCh38 (hg38)		NC_000012.12	Chr12	21,928,337	21,928,453
nssv17079464	Remapped	Perfect	NC_000012.11:g.220 81271_22081387delA	GRCh37.p13	First Pass	NC_000012.11	Chr12	22,081,271	22,081,387

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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