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dbVar

Database of genomic structural variation

nsv3564930

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 L1 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: 230 SVs from 22 studies. See in: genome view

Submitted genomic120,354,392-120,354,422

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3564930	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	120,354,407 (-15, +15)	120,354,407 (-15, +15)
nsv3564930	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	121,366,646 (-15, +15)	121,366,646 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14344173	line1 insertion	SAMN00001695	Sequencing	Sequence alignment	Heterozygous	15,732
nssv14344174	line1 insertion	SAMN00001696	Sequencing	Sequence alignment	Heterozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14344173	Submitted genomic		NC_000008.11:g.(12 0354392_120354422) _(120354392_120354 422)ins1749	GRCh38 (hg38)		NC_000008.11	Chr8	120,354,407 (-15, +15)	120,354,407 (-15, +15)
nssv14344174	Submitted genomic		NC_000008.11:g.(12 0354392_120354422) _(120354392_120354 422)ins1749	GRCh38 (hg38)		NC_000008.11	Chr8	120,354,407 (-15, +15)	120,354,407 (-15, +15)
nssv14344173	Remapped	Perfect	NC_000008.10:g.(12 1366631_121366661) _(121366631_121366 661)ins1749	GRCh37.p13	First Pass	NC_000008.10	Chr8	121,366,646 (-15, +15)	121,366,646 (-15, +15)
nssv14344174	Remapped	Perfect	NC_000008.10:g.(12 1366631_121366661) _(121366631_121366 661)ins1749	GRCh37.p13	First Pass	NC_000008.10	Chr8	121,366,646 (-15, +15)	121,366,646 (-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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