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dbVar

Database of genomic structural variation

nsv6112981

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:nsv5410787 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: 465 SVs from 43 studies. See in: genome view

Remapped(Score: Perfect):3,578,890-3,578,941

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6112981	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	3,578,890	3,578,941
nsv6112981	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	3,495,454	3,495,505

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17664956	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17664956	Remapped	Perfect	NC_000001.11:g.357 8890_3578941ins?	GRCh38.p12	First Pass	NC_000001.11	Chr1	3,578,890	3,578,941
nssv17664956	Submitted genomic		NC_000001.10:g.349 5454_3495505ins?	GRCh37 (hg19)		NC_000001.10	Chr1	3,495,454	3,495,505

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)
nssv17664956	0.07	451	6404

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