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dbVar

Database of genomic structural variation

nsv6129493

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:1

Description:nsv5551140 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):30,597,423-30,597,423

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6129493	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	30,597,423	30,597,423
nsv6129493	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	30,993,410	30,993,410

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960357	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960357	Remapped	Perfect	NC_000022.11:g.305 97423_30597424ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	30,597,423	30,597,423
nssv17960357	Submitted genomic		NC_000022.10:g.309 93410_30993411ins?	GRCh37 (hg19)		NC_000022.10	Chr22	30,993,410	30,993,410

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)
nssv17960357	0.999	6386	6392

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