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dbVar

Database of genomic structural variation

nsv6117217

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:53

Description:nsv5560614 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: 306 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):18,260,594-18,260,646

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6117217	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	18,260,594	18,260,646
nsv6117217	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	18,278,714	18,278,766

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960778	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960778	Remapped	Perfect	NC_000023.11:g.182 60594_18260646ins?	GRCh38.p12	First Pass	NC_000023.11	ChrX	18,260,594	18,260,646
nssv17960778	Submitted genomic		NC_000023.10:g.182 78714_18278766ins?	GRCh37 (hg19)		NC_000023.10	ChrX	18,278,714	18,278,766

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)
nssv17960778	0.023	150	6404

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