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dbVar

Database of genomic structural variation

nsv5930816

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:18,290

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: 323 SVs from 53 studies. See in: genome view

Submitted genomic30,729,337-30,747,626

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5930816	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	30,729,337	30,747,626
nsv5930816	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	29,056,355	29,074,644

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17377918	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17377918	Submitted genomic		NC_000017.11:g.307 29337_30747626del	GRCh38 (hg38)		NC_000017.11	Chr17	30,729,337	30,747,626
nssv17377918	Remapped	Perfect	NC_000017.10:g.290 56355_29074644del	GRCh37.p13	First Pass	NC_000017.10	Chr17	29,056,355	29,074,644

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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