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dbVar

Database of genomic structural variation

nsv3245230

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:6,251

Description:Absence of a L1HS mobile element insertion that is present in 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: 547 SVs from 50 studies. See in: genome view

Submitted genomic11,935,072-11,941,322

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3245230	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	11,935,072	11,941,322
nsv3245230	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	11,953,191	11,959,441

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14413373	line1 deletion	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
nssv14413373	Submitted genomic		NC_000023.11:g.119 35072_11941322del6 250	GRCh38 (hg38)		NC_000023.11	ChrX	11,935,072	11,941,322
nssv14413373	Remapped	Perfect	NC_000023.10:g.119 53191_11959441del6 250	GRCh37.p13	First Pass	NC_000023.10	ChrX	11,953,191	11,959,441

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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