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dbVar

Database of genomic structural variation

nsv993370

Organism: Homo sapiens

Study:nstd94 (Helman et al. 2014)
Variant Type:mobile element insertion
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

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

Publication(s):Helman et al. 2014

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: 254 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):28,182,906-28,182,906

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv993370	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	28,182,906	28,182,906
nsv993370	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	29,555,225	29,555,225

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv3391510	mobile element insertion	TCGA-CV-5443	Sequencing	Split read and paired-end mapping	1,331
nssv3391511	mobile element insertion	TCGA-06-2557	Sequencing	Split read and paired-end mapping	1,217

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv3391510	Remapped	Perfect	NC_000021.9:g.2818 2906_28182907ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	28,182,906	28,182,906
nssv3391511	Remapped	Perfect	NC_000021.9:g.2818 2906_28182907ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	28,182,906	28,182,906
nssv3391510	Submitted genomic		NC_000021.8:g.2955 5225_29555226ins?	GRCh37 (hg19)		NC_000021.8	Chr21	29,555,225	29,555,225
nssv3391511	Submitted genomic		NC_000021.8:g.2955 5225_29555226ins?	GRCh37 (hg19)		NC_000021.8	Chr21	29,555,225	29,555,225

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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