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

dbVar

Database of genomic structural variation

nsv5393494

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:2,600

Description:nsv5034096 from Abel et. al 2020. 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: 127 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):95,946,577-95,949,176

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5393494	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	95,946,577	95,949,176
nsv5393494	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	96,340,355	96,342,954

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16874307	sva deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16874307	Remapped	Perfect	NC_000012.12:g.959 46577_95949176del	GRCh38.p12	First Pass	NC_000012.12	Chr12	95,946,577	95,949,176
nssv16874307	Submitted genomic		NC_000012.11:g.963 40355_96342954del	GRCh37 (hg19)		NC_000012.11	Chr12	96,340,355	96,342,954

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)
nssv16874307	0.659	19285	29246

You are here: NCBI