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dbVar

Database of genomic structural variation

nsv3413389

Organism: Homo sapiens

Study:nstd162 (Audano et al. 2019)
Variant Type:mobile element deletion
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:717

Description:Absence of a Alu insertion that is present in the reference
Publication(s):Audano 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: 180 SVs from 35 studies. See in: genome view

Submitted genomic129,445,108-129,445,824

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3413389	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000009.12	Chr9	129,445,108	129,445,824
nsv3413389	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14714479	alu deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14717185	alu deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14717478	alu deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14723342	alu deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14723806	alu deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14725121	alu deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14725337	alu deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14728302	alu deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134
nssv14729598	alu deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14714479	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14717185	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14717478	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14723342	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14723806	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14725121	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14725337	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14728302	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14729598	Submitted genomic		NC_000009.12:g.129 445108_129445824de l	GRCh38 (hg38)		NC_000009.12	Chr9	129,445,108	129,445,824
nssv14714479	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103
nssv14717185	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103
nssv14717478	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103
nssv14723342	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103
nssv14723806	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103
nssv14725121	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103
nssv14725337	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103
nssv14728302	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103
nssv14729598	Remapped	Perfect	NC_000009.11:g.132 207387_132208103de lNC_000009.11:g.13 2207387_132208103d el	GRCh37.p13	First Pass	NC_000009.11	Chr9	132,207,387	132,208,103

Showing 18 of 27

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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