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dbVar

Database of genomic structural variation

nsv6130731

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:51

Description:nsv5559075 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: 152 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):29,538,761-29,538,811

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130731	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	29,538,761	29,538,811
nsv6130731	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	30,911,082	30,911,132

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17967357	line1 insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17967357	Remapped	Perfect	NC_000021.9:g.2953 8761_29538811ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	29,538,761	29,538,811
nssv17967357	Submitted genomic		NC_000021.8:g.3091 1082_30911132ins?	GRCh37 (hg19)		NC_000021.8	Chr21	30,911,082	30,911,132

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)
nssv17967357	0.016	100	6308

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