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dbVar

Database of genomic structural variation

nsv5980337

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: 115 SVs from 30 studies. See in: genome view

Submitted genomic124,234,976-124,234,976

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5980337	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	124,234,976	124,234,976
nsv5980337	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	124,719,522	124,719,522

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17355226	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17355226	Submitted genomic		NC_000012.12:g.124 234976_124234977in s449	GRCh38 (hg38)		NC_000012.12	Chr12	124,234,976	124,234,976
nssv17355226	Remapped	Perfect	NC_000012.11:g.124 719522_124719523in s449	GRCh37.p13	First Pass	NC_000012.11	Chr12	124,719,522	124,719,522

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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