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dbVar

Database of genomic structural variation

nsv3531823

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:1
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: 412 SVs from 27 studies. See in: genome view

Submitted genomic120,087,096-120,087,096

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3531823	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	120,087,096	120,087,096
nsv3531823	Remapped	Perfect	GRCh37.p13	Primary Assembly	Second Pass	NC_000023.10	ChrX	119,221,054	119,221,054
nsv3531823	Remapped	Perfect	GRCh37.p13	PATCHES	First Pass	NW_004070886.1	ChrX\|NW_00 4070886.1	139,526	139,526

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14430348	herv insertion	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
nssv14430348	Submitted genomic		NC_000023.11:g.120 087096_120087097in s1021	GRCh38 (hg38)		NC_000023.11	ChrX	120,087,096	120,087,096
nssv14430348	Remapped	Perfect	NW_004070886.1:g.1 39526_139527ins102 1	GRCh37.p13	First Pass	NW_004070886.1	ChrX\|NW_00 4070886.1	139,526	139,526
nssv14430348	Remapped	Perfect	NC_000023.10:g.119 221054_119221055in s1021	GRCh37.p13	Second Pass	NC_000023.10	ChrX	119,221,054	119,221,054

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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