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dbVar

Database of genomic structural variation

nsv5930171

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:52

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: 99 SVs from 18 studies. See in: genome view

Submitted genomic58,458,296-58,458,347

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5930171	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	58,458,296	58,458,347
nsv5930171	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	58,925,014	58,925,065

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17389200	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17389200	Submitted genomic		NC_000014.9:g.5845 8296_58458347del	GRCh38 (hg38)		NC_000014.9	Chr14	58,458,296	58,458,347
nssv17389200	Remapped	Perfect	NC_000014.8:g.5892 5014_58925065del	GRCh37.p13	First Pass	NC_000014.8	Chr14	58,925,014	58,925,065

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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