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dbVar

Database of genomic structural variation

nsv3537127

Organism: Homo sapiens

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

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

Description:Insertion of a HERV mobile element relative to 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: 145 SVs from 27 studies. See in: genome view

Submitted genomic192,131,239-192,131,239

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3537127	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	192,131,239	192,131,239
nsv3537127	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	192,995,965	192,995,965

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14421270	herv insertion	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
nssv14421270	Submitted genomic		NC_000002.12:g.192 131239_192131240in s61	GRCh38 (hg38)		NC_000002.12	Chr2	192,131,239	192,131,239
nssv14421270	Remapped	Perfect	NC_000002.11:g.192 995965_192995966in s61	GRCh37.p13	First Pass	NC_000002.11	Chr2	192,995,965	192,995,965

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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