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dbVar

Database of genomic structural variation

nsv3223031

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:mobile element deletion
Method Type:Optical mapping, Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:123

Description:Absence of a HERV mobile element insertion that is present in the reference
Publication(s):Chaisson et al. 2019

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

Submitted genomic130,261,137-130,261,259

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3223031	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	130,261,137	130,261,259
nsv3223031	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	130,582,282	130,582,404

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14436996	herv deletion	HG00514	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	39,861

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14436996	Submitted genomic		NC_000006.12:g.130 261137_130261259de l122	GRCh38 (hg38)		NC_000006.12	Chr6	130,261,137	130,261,259
nssv14436996	Remapped	Perfect	NC_000006.11:g.130 582282_130582404de l122	GRCh37.p13	First Pass	NC_000006.11	Chr6	130,582,282	130,582,404

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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