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dbVar

Database of genomic structural variation

nsv5961130

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:136

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: 118 SVs from 33 studies. See in: genome view

Submitted genomic27,221,188-27,221,323

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5961130	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	27,221,188	27,221,323
nsv5961130	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	27,617,149	27,617,284

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17407082	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17407082	Submitted genomic		NC_000022.11:g.272 21188_27221323del	GRCh38 (hg38)		NC_000022.11	Chr22	27,221,188	27,221,323
nssv17407082	Remapped	Perfect	NC_000022.10:g.276 17149_27617284del	GRCh37.p13	First Pass	NC_000022.10	Chr22	27,617,149	27,617,284

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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