Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3565633

Organism: Homo sapiens

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

Variant Calls:7
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: 179 SVs from 36 studies. See in: genome view

Submitted genomic71,486,986-71,487,016

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565633	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	71,487,001 (-15, +15)	71,487,001 (-15, +15)
nsv3565633	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	72,399,236 (-15, +15)	72,399,236 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14343095	line1 insertion	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14343096	line1 insertion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14343097	line1 insertion	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14343098	line1 insertion	SAMN00006580	Sequencing	Sequence alignment	Heterozygous	14,212
nssv14343099	line1 insertion	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185
nssv14343100	line1 insertion	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419
nssv14343101	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
nssv14343095	Submitted genomic		NC_000008.11:g.(71 486986_71487016)_( 71486986_71487016) ins6015	GRCh38 (hg38)		NC_000008.11	Chr8	71,487,001 (-15, +15)	71,487,001 (-15, +15)
nssv14343096	Submitted genomic		NC_000008.11:g.(71 486986_71487016)_( 71486986_71487016) ins6015	GRCh38 (hg38)		NC_000008.11	Chr8	71,487,001 (-15, +15)	71,487,001 (-15, +15)
nssv14343097	Submitted genomic		NC_000008.11:g.(71 486986_71487016)_( 71486986_71487016) ins6015	GRCh38 (hg38)		NC_000008.11	Chr8	71,487,001 (-15, +15)	71,487,001 (-15, +15)
nssv14343098	Submitted genomic		NC_000008.11:g.(71 486986_71487016)_( 71486986_71487016) ins6015	GRCh38 (hg38)		NC_000008.11	Chr8	71,487,001 (-15, +15)	71,487,001 (-15, +15)
nssv14343099	Submitted genomic		NC_000008.11:g.(71 486986_71487016)_( 71486986_71487016) ins6015	GRCh38 (hg38)		NC_000008.11	Chr8	71,487,001 (-15, +15)	71,487,001 (-15, +15)
nssv14343100	Submitted genomic		NC_000008.11:g.(71 486986_71487016)_( 71486986_71487016) ins6015	GRCh38 (hg38)		NC_000008.11	Chr8	71,487,001 (-15, +15)	71,487,001 (-15, +15)
nssv14343101	Submitted genomic		NC_000008.11:g.(71 486986_71487016)_( 71486986_71487016) ins6015	GRCh38 (hg38)		NC_000008.11	Chr8	71,487,001 (-15, +15)	71,487,001 (-15, +15)
nssv14343095	Remapped	Perfect	NC_000008.10:g.(72 399221_72399251)_( 72399221_72399251) ins6015	GRCh37.p13	First Pass	NC_000008.10	Chr8	72,399,236 (-15, +15)	72,399,236 (-15, +15)
nssv14343096	Remapped	Perfect	NC_000008.10:g.(72 399221_72399251)_( 72399221_72399251) ins6015	GRCh37.p13	First Pass	NC_000008.10	Chr8	72,399,236 (-15, +15)	72,399,236 (-15, +15)
nssv14343097	Remapped	Perfect	NC_000008.10:g.(72 399221_72399251)_( 72399221_72399251) ins6015	GRCh37.p13	First Pass	NC_000008.10	Chr8	72,399,236 (-15, +15)	72,399,236 (-15, +15)
nssv14343098	Remapped	Perfect	NC_000008.10:g.(72 399221_72399251)_( 72399221_72399251) ins6015	GRCh37.p13	First Pass	NC_000008.10	Chr8	72,399,236 (-15, +15)	72,399,236 (-15, +15)
nssv14343099	Remapped	Perfect	NC_000008.10:g.(72 399221_72399251)_( 72399221_72399251) ins6015	GRCh37.p13	First Pass	NC_000008.10	Chr8	72,399,236 (-15, +15)	72,399,236 (-15, +15)
nssv14343100	Remapped	Perfect	NC_000008.10:g.(72 399221_72399251)_( 72399221_72399251) ins6015	GRCh37.p13	First Pass	NC_000008.10	Chr8	72,399,236 (-15, +15)	72,399,236 (-15, +15)
nssv14343101	Remapped	Perfect	NC_000008.10:g.(72 399221_72399251)_( 72399221_72399251) ins6015	GRCh37.p13	First Pass	NC_000008.10	Chr8	72,399,236 (-15, +15)	72,399,236 (-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.

You are here: NCBI