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dbVar

Database of genomic structural variation

nsv6116745

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element insertion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

Description:nsv5417454 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

Links to Other Resources

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: 157 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):25,446,403-25,446,454

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6116745	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	25,446,403	25,446,454
nsv6116745	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	25,427,039	25,427,090

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17967841	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17967841	Remapped	Perfect	NC_000020.11:g.254 46403_25446454ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	25,446,403	25,446,454
nssv17967841	Submitted genomic		NC_000020.10:g.254 27039_25427090ins?	GRCh37 (hg19)		NC_000020.10	Chr20	25,427,039	25,427,090

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17967841	0.013	83	6404

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