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dbVar

Database of genomic structural variation

nsv3565939

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 Alu 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: 422 SVs from 29 studies. See in: genome view

Submitted genomic122,435,461-122,435,491

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565939	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000023.11	ChrX	122,435,476 (-15, +15)	122,435,476 (-15, +15)
nsv3565939	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000023.10	ChrX	121,569,329 (-15, +15)	121,569,329 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14352760	alu insertion	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14352761	alu insertion	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14352760	Submitted genomic		NC_000023.11:g.(12 2435461_122435491) _(122435461_122435 491)ins280	GRCh38 (hg38)		NC_000023.11	ChrX	122,435,476 (-15, +15)	122,435,476 (-15, +15)
nssv14352761	Submitted genomic		NC_000023.11:g.(12 2435461_122435491) _(122435461_122435 491)ins280	GRCh38 (hg38)		NC_000023.11	ChrX	122,435,476 (-15, +15)	122,435,476 (-15, +15)
nssv14352760	Remapped	Perfect	NC_000023.10:g.(12 1569314_121569344) _(121569314_121569 344)ins280	GRCh37.p13	First Pass	NC_000023.10	ChrX	121,569,329 (-15, +15)	121,569,329 (-15, +15)
nssv14352761	Remapped	Perfect	NC_000023.10:g.(12 1569314_121569344) _(121569314_121569 344)ins280	GRCh37.p13	First Pass	NC_000023.10	ChrX	121,569,329 (-15, +15)	121,569,329 (-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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