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dbVar

Database of genomic structural variation

nsv3565539

Organism: Homo sapiens

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

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

Description:Insertion of a L1 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: 404 SVs from 58 studies. See in: genome view

Submitted genomic61,981,953-61,981,983

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565539	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	61,981,968 (-15, +15)	61,981,968 (-15, +15)
nsv3565539	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	45,118,120 (-15, +15)	45,118,120 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14346085	line1 insertion	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14346086	line1 insertion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14346085	Submitted genomic		NC_000009.12:g.(61 981953_61981983)_( 61981953_61981983) ins437	GRCh38 (hg38)		NC_000009.12	Chr9	61,981,968 (-15, +15)	61,981,968 (-15, +15)
nssv14346086	Submitted genomic		NC_000009.12:g.(61 981953_61981983)_( 61981953_61981983) ins437	GRCh38 (hg38)		NC_000009.12	Chr9	61,981,968 (-15, +15)	61,981,968 (-15, +15)
nssv14346085	Remapped	Perfect	NC_000009.11:g.(45 118105_45118135)_( 45118105_45118135) ins437	GRCh37.p13	First Pass	NC_000009.11	Chr9	45,118,120 (-15, +15)	45,118,120 (-15, +15)
nssv14346086	Remapped	Perfect	NC_000009.11:g.(45 118105_45118135)_( 45118105_45118135) ins437	GRCh37.p13	First Pass	NC_000009.11	Chr9	45,118,120 (-15, +15)	45,118,120 (-15, +15)

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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