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dbVar

Database of genomic structural variation

nsv5879247

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:392

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: 185 SVs from 25 studies. See in: genome view

Submitted genomic32,134,555-32,134,946

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5879247	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	32,134,555	32,134,946
nsv5879247	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	32,359,624	32,360,015

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17397017	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17397017	Submitted genomic		NC_000002.12:g.321 34555_32134946del	GRCh38 (hg38)		NC_000002.12	Chr2	32,134,555	32,134,946
nssv17397017	Remapped	Perfect	NC_000002.11:g.323 59624_32360015del	GRCh37.p13	First Pass	NC_000002.11	Chr2	32,359,624	32,360,015

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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