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dbVar

Database of genomic structural variation

nsv6130267

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:28

Description:nsv5543422 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: 151 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):42,883,720-42,883,747

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130267	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	42,883,720	42,883,747
nsv6130267	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	41,512,360	41,512,387

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959727	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959727	Remapped	Perfect	NC_000020.11:g.428 83720_42883747ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	42,883,720	42,883,747
nssv17959727	Submitted genomic		NC_000020.10:g.415 12360_41512387ins?	GRCh37 (hg19)		NC_000020.10	Chr20	41,512,360	41,512,387

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)
nssv17959727	0.545	3488	6404

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