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dbVar

Database of genomic structural variation

nsv5930009

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:132

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: 81 SVs from 20 studies. See in: genome view

Submitted genomic52,718,513-52,718,644

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5930009	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	52,718,513	52,718,644
nsv5930009	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	53,185,231	53,185,362

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17381933	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17381933	Submitted genomic		NC_000014.9:g.5271 8513_52718644del	GRCh38 (hg38)		NC_000014.9	Chr14	52,718,513	52,718,644
nssv17381933	Remapped	Perfect	NC_000014.8:g.5318 5231_53185362del	GRCh37.p13	First Pass	NC_000014.8	Chr14	53,185,231	53,185,362

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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