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dbVar

Database of genomic structural variation

nsv5718135

Organism: Homo sapiens

Study:nstd211 (Chuang et al. 2021)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh38

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):Chuang et al. 2021

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: 155 SVs from 34 studies. See in: genome view

Submitted genomic74,036,171-74,036,171

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5718135	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	74,036,171	74,036,171
nsv5718135	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	74,901,888	74,901,888

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17235218	line1 insertion	Sequencing	Other
nssv17243584	line1 insertion	Sequencing	Other

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17235218	Submitted genomic		NC_000004.12:g.740 36171_74036172ins3 78	GRCh38 (hg38)		NC_000004.12	Chr4	74,036,171	74,036,171
nssv17243584	Submitted genomic		NC_000004.12:g.740 36171_74036172ins3 78	GRCh38 (hg38)		NC_000004.12	Chr4	74,036,171	74,036,171
nssv17235218	Remapped	Perfect	NC_000004.11:g.749 01888_74901889ins3 78	GRCh37.p13	First Pass	NC_000004.11	Chr4	74,901,888	74,901,888
nssv17243584	Remapped	Perfect	NC_000004.11:g.749 01888_74901889ins3 78	GRCh37.p13	First Pass	NC_000004.11	Chr4	74,901,888	74,901,888

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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