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dbVar

Database of genomic structural variation

nsv6130808

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:17

Description:nsv5540107 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: 96 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):18,675,877-18,675,893

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130808	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	18,675,877	18,675,893
nsv6130808	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	18,656,521	18,656,537

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959624	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959624	Remapped	Perfect	NC_000020.11:g.186 75877_18675893ins?	GRCh38.p12	First Pass	NC_000020.11	Chr20	18,675,877	18,675,893
nssv17959624	Submitted genomic		NC_000020.10:g.186 56521_18656537ins?	GRCh37 (hg19)		NC_000020.10	Chr20	18,656,521	18,656,537

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)
nssv17959624	0.765	4898	6404

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