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dbVar

Database of genomic structural variation

nsv6295005

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:nsv5401233 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: 117 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):13,368,341-13,368,392

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295005	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	13,368,341	13,368,392
nsv6295005	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	13,508,466	13,508,517

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17661627	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17661627	Remapped	Perfect	NC_000002.12:g.133 68341_13368392ins?	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,368,341	13,368,392
nssv17661627	Submitted genomic		NC_000002.11:g.135 08466_13508517ins?	GRCh37 (hg19)		NC_000002.11	Chr2	13,508,466	13,508,517

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)
nssv17661627	0.765	4896	6404

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