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dbVar

Database of genomic structural variation

nsv6130375

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:nsv5551443 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: 163 SVs from 23 studies. See in: genome view

Remapped(Score: Perfect):40,286,733-40,286,733

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130375	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	40,286,733	40,286,733
nsv6130375	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	41,658,660	41,658,660

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960120	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960120	Remapped	Perfect	NC_000021.9:g.4028 6733_40286734ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	40,286,733	40,286,733
nssv17960120	Submitted genomic		NC_000021.8:g.4165 8660_41658661ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,658,660	41,658,660

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)
nssv17960120	0.056	309	5528

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