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

dbVar

Database of genomic structural variation

nsv3109664

Organism: Homo sapiens

Study:nstd144 (Gardner et al. 2017)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

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

Description:TSD=AAGAAAGTGATTGCATC;INTERNAL=NR_040114,TERMI
NATOR;MEINFO=AluY,0,281,+
Publication(s):Gardner et al. 2017

Links to Other Resources

Overlapping Genes

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: 126 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):32,134,109-32,134,109

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3109664	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	32,134,109	32,134,109
nsv3109664	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	32,530,096	32,530,096

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv14069163	alu insertion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14069163	Remapped	Perfect	NC_000022.11:g.321 34109_32134110ins2 81	GRCh38.p12	First Pass	NC_000022.11	Chr22	32,134,109	32,134,109
nssv14069163	Submitted genomic		NC_000022.10:g.325 30096_32530097ins2 81	GRCh37 (hg19)		NC_000022.10	Chr22	32,530,096	32,530,096

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)
nssv14069163	<0.001

You are here: NCBI