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dbVar

Database of genomic structural variation

nsv5595314

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:256

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: 141 SVs from 33 studies. See in: genome view

Submitted genomic33,081,882-33,082,137

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5595314	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	33,081,882	33,082,137
nsv5595314	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	33,572,788	33,573,043

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17104595	deletion	NA24385	Sequencing	Sequence alignment	2,573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17104595	Submitted genomic		NC_000019.10:g.330 81882_33082137delA	GRCh38 (hg38)		NC_000019.10	Chr19	33,081,882	33,082,137
nssv17104595	Remapped	Perfect	NC_000019.9:g.3357 2788_33573043delA	GRCh37.p13	First Pass	NC_000019.9	Chr19	33,572,788	33,573,043

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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