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dbVar

Database of genomic structural variation

nsv5980345

Organism: Homo sapiens

Study:nstd209 (Almarri et al. 2020)
Variant Type:insertion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1

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: 100 SVs from 28 studies. See in: genome view

Submitted genomic114,784,181-114,784,181

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5980345	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	114,784,181	114,784,181
nsv5980345	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	115,221,986	115,221,986

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17356224	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17356224	Submitted genomic		NC_000012.12:g.114 784181_114784182in s309	GRCh38 (hg38)		NC_000012.12	Chr12	114,784,181	114,784,181
nssv17356224	Remapped	Perfect	NC_000012.11:g.115 221986_115221987in s309	GRCh37.p13	First Pass	NC_000012.11	Chr12	115,221,986	115,221,986

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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