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dbVar

Database of genomic structural variation

nsv3542967

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:3
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: 119 SVs from 35 studies. See in: genome view

Submitted genomic83,460,626-83,460,626

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3542967	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000007.14	Chr7	83,460,626	83,460,626
nsv3542967	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	83,089,942	83,089,942

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14401859	herv insertion	SAMN00001696	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	45,591
nssv14427878	herv insertion	HG00514	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	39,861
nssv14459337	herv insertion	SAMN00006581	Optical mapping, Sequencing	Optical mapping, Sequence alignment, de novo and local sequence assembly	41,185

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14401859	Submitted genomic		NC_000007.14:g.834 60626_83460627ins6 3	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,626	83,460,626
nssv14427878	Submitted genomic		NC_000007.14:g.834 60626_83460627ins6 3	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,626	83,460,626
nssv14459337	Submitted genomic		NC_000007.14:g.834 60626_83460627ins6 4	GRCh38 (hg38)		NC_000007.14	Chr7	83,460,626	83,460,626
nssv14401859	Remapped	Perfect	NC_000007.13:g.830 89942_83089943ins6 3	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,942	83,089,942
nssv14427878	Remapped	Perfect	NC_000007.13:g.830 89942_83089943ins6 3	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,942	83,089,942
nssv14459337	Remapped	Perfect	NC_000007.13:g.830 89942_83089943ins6 4	GRCh37.p13	First Pass	NC_000007.13	Chr7	83,089,942	83,089,942

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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