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dbVar

Database of genomic structural variation

nsv5919739

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:58,102

Publication(s):Almarri et al. 2020

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: 750 SVs from 75 studies. See in: genome view

Submitted genomic12,569,944-12,628,045

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5919739	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	12,569,944	12,628,045
nsv5919739	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	12,427,453	12,485,554

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17448233	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17448233	Submitted genomic		NC_000008.11:g.125 69944_12628045del	GRCh38 (hg38)		NC_000008.11	Chr8	12,569,944	12,628,045
nssv17448233	Remapped	Perfect	NC_000008.10:g.124 27453_12485554del	GRCh37.p13	First Pass	NC_000008.10	Chr8	12,427,453	12,485,554

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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