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dbVar

Database of genomic structural variation

nsv6130097

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:nsv5551078 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: 167 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):40,301,612-40,301,612

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6130097	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	40,301,612	40,301,612
nsv6130097	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	41,673,539	41,673,539

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17960121	insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17960121	Remapped	Perfect	NC_000021.9:g.4030 1612_40301613ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	40,301,612	40,301,612
nssv17960121	Submitted genomic		NC_000021.8:g.4167 3539_41673540ins?	GRCh37 (hg19)		NC_000021.8	Chr21	41,673,539	41,673,539

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)
nssv17960121	0.252	1601	6354

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