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dbVar

Database of genomic structural variation

nsv6130079

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:243

Description:nsv5534594 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: 182 SVs from 26 studies. See in: genome view

Remapped(Score: Perfect):53,206,256-53,206,498

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130079	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000018.10	Chr18	53,206,256	53,206,498
nsv6130079	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000018.9	Chr18	50,732,626	50,732,868

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17968211	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17968211	Remapped	Perfect	NC_000018.10:g.532 06256_53206498ins?	GRCh38.p12	First Pass	NC_000018.10	Chr18	53,206,256	53,206,498
nssv17968211	Submitted genomic		NC_000018.9:g.5073 2626_50732868ins?	GRCh37 (hg19)		NC_000018.9	Chr18	50,732,626	50,732,868

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)
nssv17968211	0.177	1006	5698

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