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dbVar

Database of genomic structural variation

nsv3565188

Organism: Homo sapiens

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

Variant Calls:3
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: 257 SVs from 31 studies. See in: genome view

Submitted genomic111,109,070-111,109,100

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565188	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	111,109,085 (-15, +15)	111,109,085 (-15, +15)
nsv3565188	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	112,121,314 (-15, +15)	112,121,314 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14343685	line1 insertion	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419
nssv14343686	line1 insertion	SAMN00001695	Sequencing	Sequence alignment	Heterozygous	15,732
nssv14343687	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
nssv14343685	Submitted genomic		NC_000008.11:g.(11 1109070_111109100) _(111109070_111109 100)ins316	GRCh38 (hg38)		NC_000008.11	Chr8	111,109,085 (-15, +15)	111,109,085 (-15, +15)
nssv14343686	Submitted genomic		NC_000008.11:g.(11 1109070_111109100) _(111109070_111109 100)ins316	GRCh38 (hg38)		NC_000008.11	Chr8	111,109,085 (-15, +15)	111,109,085 (-15, +15)
nssv14343687	Submitted genomic		NC_000008.11:g.(11 1109070_111109100) _(111109070_111109 100)ins316	GRCh38 (hg38)		NC_000008.11	Chr8	111,109,085 (-15, +15)	111,109,085 (-15, +15)
nssv14343685	Remapped	Perfect	NC_000008.10:g.(11 2121299_112121329) _(112121299_112121 329)ins316	GRCh37.p13	First Pass	NC_000008.10	Chr8	112,121,314 (-15, +15)	112,121,314 (-15, +15)
nssv14343686	Remapped	Perfect	NC_000008.10:g.(11 2121299_112121329) _(112121299_112121 329)ins316	GRCh37.p13	First Pass	NC_000008.10	Chr8	112,121,314 (-15, +15)	112,121,314 (-15, +15)
nssv14343687	Remapped	Perfect	NC_000008.10:g.(11 2121299_112121329) _(112121299_112121 329)ins316	GRCh37.p13	First Pass	NC_000008.10	Chr8	112,121,314 (-15, +15)	112,121,314 (-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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