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dbVar

Database of genomic structural variation

nsv6130801

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:4

Description:nsv5552149 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: 181 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):79,372,815-79,372,818

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130801	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	79,372,815	79,372,818
nsv6130801	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	79,946,950	79,946,953

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17963063	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17963063	Remapped	Perfect	NC_000013.11:g.793 72815_79372818ins?	GRCh38.p12	First Pass	NC_000013.11	Chr13	79,372,815	79,372,818
nssv17963063	Submitted genomic		NC_000013.10:g.799 46950_79946953ins?	GRCh37 (hg19)		NC_000013.10	Chr13	79,946,950	79,946,953

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)
nssv17963063	0.118	739	6264

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