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dbVar

Database of genomic structural variation

nsv3565919

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 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: 161 SVs from 44 studies. See in: genome view

Submitted genomic87,894,607-87,894,637

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3565919	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	87,894,622 (-15, +15)	87,894,622 (-15, +15)
nsv3565919	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	90,509,537 (-15, +15)	90,509,537 (-15, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14348127	alu insertion	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14348128	alu insertion	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14348129	alu insertion	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14348127	Submitted genomic		NC_000009.12:g.(87 894607_87894637)_( 87894607_87894637) ins280	GRCh38 (hg38)		NC_000009.12	Chr9	87,894,622 (-15, +15)	87,894,622 (-15, +15)
nssv14348128	Submitted genomic		NC_000009.12:g.(87 894607_87894637)_( 87894607_87894637) ins280	GRCh38 (hg38)		NC_000009.12	Chr9	87,894,622 (-15, +15)	87,894,622 (-15, +15)
nssv14348129	Submitted genomic		NC_000009.12:g.(87 894607_87894637)_( 87894607_87894637) ins280	GRCh38 (hg38)		NC_000009.12	Chr9	87,894,622 (-15, +15)	87,894,622 (-15, +15)
nssv14348127	Remapped	Perfect	NC_000009.11:g.(90 509522_90509552)_( 90509522_90509552) ins280	GRCh37.p13	First Pass	NC_000009.11	Chr9	90,509,537 (-15, +15)	90,509,537 (-15, +15)
nssv14348128	Remapped	Perfect	NC_000009.11:g.(90 509522_90509552)_( 90509522_90509552) ins280	GRCh37.p13	First Pass	NC_000009.11	Chr9	90,509,537 (-15, +15)	90,509,537 (-15, +15)
nssv14348129	Remapped	Perfect	NC_000009.11:g.(90 509522_90509552)_( 90509522_90509552) ins280	GRCh37.p13	First Pass	NC_000009.11	Chr9	90,509,537 (-15, +15)	90,509,537 (-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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