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dbVar

Database of genomic structural variation

nsv3375141

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:6,125

Description:Absence of a L1 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: 183 SVs from 39 studies. See in: genome view

Submitted genomic172,315,253-172,321,377

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3375141	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	172,315,253	172,321,377
nsv3375141	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	173,179,981	173,186,105

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14752243	line1 deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14754244	line1 deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14761492	line1 deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14768611	line1 deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14770957	line1 deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14771277	line1 deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14752243	Submitted genomic		NC_000002.12:g.172 315253_172321377de l	GRCh38 (hg38)		NC_000002.12	Chr2	172,315,253	172,321,377
nssv14754244	Submitted genomic		NC_000002.12:g.172 315253_172321377de l	GRCh38 (hg38)		NC_000002.12	Chr2	172,315,253	172,321,377
nssv14761492	Submitted genomic		NC_000002.12:g.172 315253_172321377de l	GRCh38 (hg38)		NC_000002.12	Chr2	172,315,253	172,321,377
nssv14768611	Submitted genomic		NC_000002.12:g.172 315253_172321377de l	GRCh38 (hg38)		NC_000002.12	Chr2	172,315,253	172,321,377
nssv14770957	Submitted genomic		NC_000002.12:g.172 315253_172321377de l	GRCh38 (hg38)		NC_000002.12	Chr2	172,315,253	172,321,377
nssv14771277	Submitted genomic		NC_000002.12:g.172 315253_172321377de l	GRCh38 (hg38)		NC_000002.12	Chr2	172,315,253	172,321,377
nssv14752243	Remapped	Perfect	NC_000002.11:g.173 179981_173186105de lNC_000002.11:g.17 3179981_173186105d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	173,179,981	173,186,105
nssv14754244	Remapped	Perfect	NC_000002.11:g.173 179981_173186105de lNC_000002.11:g.17 3179981_173186105d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	173,179,981	173,186,105
nssv14761492	Remapped	Perfect	NC_000002.11:g.173 179981_173186105de lNC_000002.11:g.17 3179981_173186105d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	173,179,981	173,186,105
nssv14768611	Remapped	Perfect	NC_000002.11:g.173 179981_173186105de lNC_000002.11:g.17 3179981_173186105d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	173,179,981	173,186,105
nssv14770957	Remapped	Perfect	NC_000002.11:g.173 179981_173186105de lNC_000002.11:g.17 3179981_173186105d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	173,179,981	173,186,105
nssv14771277	Remapped	Perfect	NC_000002.11:g.173 179981_173186105de lNC_000002.11:g.17 3179981_173186105d el	GRCh37.p13	First Pass	NC_000002.11	Chr2	173,179,981	173,186,105

Showing 12 of 18

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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