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dbVar

Database of genomic structural variation

nsv5949631

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

Submitted genomic54,212,418-54,212,418

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5949631	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	54,212,418	54,212,418
nsv5949631	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	54,077,216	54,077,216

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17440402	insertion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17440402	Submitted genomic		NC_000006.12:g.542 12418_54212419ins3 31	GRCh38 (hg38)		NC_000006.12	Chr6	54,212,418	54,212,418
nssv17440402	Remapped	Perfect	NC_000006.11:g.540 77216_54077217ins3 31	GRCh37.p13	First Pass	NC_000006.11	Chr6	54,077,216	54,077,216

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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