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dbVar

Database of genomic structural variation

nsv3565309

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:1

Description:Insertion of a SVA 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: 155 SVs from 35 studies. See in: genome view

Submitted genomic68,758,760-68,758,790

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565309	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	68,758,775 (-15, +15)	68,758,775 (-15, +15)
nsv3565309	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	69,671,010 (-15, +15)	69,671,010 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14342416	sva insertion	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14342417	sva insertion	SAMN00006466	Sequencing	Sequence alignment	Heterozygous	14,137
nssv14342418	sva insertion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14342419	sva insertion	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14342420	sva 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
nssv14342416	Submitted genomic		NC_000008.11:g.(68 758760_68758790)_( 68758760_68758790) ins1267	GRCh38 (hg38)		NC_000008.11	Chr8	68,758,775 (-15, +15)	68,758,775 (-15, +15)
nssv14342417	Submitted genomic		NC_000008.11:g.(68 758760_68758790)_( 68758760_68758790) ins1267	GRCh38 (hg38)		NC_000008.11	Chr8	68,758,775 (-15, +15)	68,758,775 (-15, +15)
nssv14342418	Submitted genomic		NC_000008.11:g.(68 758760_68758790)_( 68758760_68758790) ins1267	GRCh38 (hg38)		NC_000008.11	Chr8	68,758,775 (-15, +15)	68,758,775 (-15, +15)
nssv14342419	Submitted genomic		NC_000008.11:g.(68 758760_68758790)_( 68758760_68758790) ins1267	GRCh38 (hg38)		NC_000008.11	Chr8	68,758,775 (-15, +15)	68,758,775 (-15, +15)
nssv14342420	Submitted genomic		NC_000008.11:g.(68 758760_68758790)_( 68758760_68758790) ins1267	GRCh38 (hg38)		NC_000008.11	Chr8	68,758,775 (-15, +15)	68,758,775 (-15, +15)
nssv14342416	Remapped	Perfect	NC_000008.10:g.(69 670995_69671025)_( 69670995_69671025) ins1267	GRCh37.p13	First Pass	NC_000008.10	Chr8	69,671,010 (-15, +15)	69,671,010 (-15, +15)
nssv14342417	Remapped	Perfect	NC_000008.10:g.(69 670995_69671025)_( 69670995_69671025) ins1267	GRCh37.p13	First Pass	NC_000008.10	Chr8	69,671,010 (-15, +15)	69,671,010 (-15, +15)
nssv14342418	Remapped	Perfect	NC_000008.10:g.(69 670995_69671025)_( 69670995_69671025) ins1267	GRCh37.p13	First Pass	NC_000008.10	Chr8	69,671,010 (-15, +15)	69,671,010 (-15, +15)
nssv14342419	Remapped	Perfect	NC_000008.10:g.(69 670995_69671025)_( 69670995_69671025) ins1267	GRCh37.p13	First Pass	NC_000008.10	Chr8	69,671,010 (-15, +15)	69,671,010 (-15, +15)
nssv14342420	Remapped	Perfect	NC_000008.10:g.(69 670995_69671025)_( 69670995_69671025) ins1267	GRCh37.p13	First Pass	NC_000008.10	Chr8	69,671,010 (-15, +15)	69,671,010 (-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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