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dbVar

Database of genomic structural variation

nsv5931218

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:294

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: 137 SVs from 29 studies. See in: genome view

Submitted genomic4,805,157-4,805,450

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5931218	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	4,805,157	4,805,450
nsv5931218	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	4,708,452	4,708,745

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17386518	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17386518	Submitted genomic		NC_000017.11:g.480 5157_4805450del	GRCh38 (hg38)		NC_000017.11	Chr17	4,805,157	4,805,450
nssv17386518	Remapped	Perfect	NC_000017.10:g.470 8452_4708745del	GRCh37.p13	First Pass	NC_000017.10	Chr17	4,708,452	4,708,745

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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