Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6295004

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:mobile element insertion
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:52

Description:nsv5402055 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: 74 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):32,448,297-32,448,348

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295004	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	32,448,297	32,448,348
nsv6295004	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	32,489,789	32,489,840

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17662318	alu insertion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17662318	Remapped	Perfect	NC_000003.12:g.324 48297_32448348ins?	GRCh38.p12	First Pass	NC_000003.12	Chr3	32,448,297	32,448,348
nssv17662318	Submitted genomic		NC_000003.11:g.324 89789_32489840ins?	GRCh37 (hg19)		NC_000003.11	Chr3	32,489,789	32,489,840

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)
nssv17662318	0.025	161	6396

You are here: NCBI