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dbVar

Database of genomic structural variation

nsv3381643

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:6,262

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: 325 SVs from 47 studies. See in: genome view

Submitted genomic13,416,480-13,422,741

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3381643	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	13,416,480	13,422,741
nsv3381643	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	13,416,592	13,422,853

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14776458	line1 deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14777862	line1 deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14782002	line1 deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14783931	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
nssv14776458	Submitted genomic		NC_000005.10:g.134 16480_13422741del	GRCh38 (hg38)		NC_000005.10	Chr5	13,416,480	13,422,741
nssv14777862	Submitted genomic		NC_000005.10:g.134 16480_13422741del	GRCh38 (hg38)		NC_000005.10	Chr5	13,416,480	13,422,741
nssv14782002	Submitted genomic		NC_000005.10:g.134 16480_13422741del	GRCh38 (hg38)		NC_000005.10	Chr5	13,416,480	13,422,741
nssv14783931	Submitted genomic		NC_000005.10:g.134 16480_13422741del	GRCh38 (hg38)		NC_000005.10	Chr5	13,416,480	13,422,741
nssv14776458	Remapped	Perfect	NC_000005.9:g.1341 6592_13422853delNC _000005.9:g.134165 92_13422853del	GRCh37.p13	First Pass	NC_000005.9	Chr5	13,416,592	13,422,853
nssv14777862	Remapped	Perfect	NC_000005.9:g.1341 6592_13422853delNC _000005.9:g.134165 92_13422853del	GRCh37.p13	First Pass	NC_000005.9	Chr5	13,416,592	13,422,853
nssv14782002	Remapped	Perfect	NC_000005.9:g.1341 6592_13422853delNC _000005.9:g.134165 92_13422853del	GRCh37.p13	First Pass	NC_000005.9	Chr5	13,416,592	13,422,853
nssv14783931	Remapped	Perfect	NC_000005.9:g.1341 6592_13422853delNC _000005.9:g.134165 92_13422853del	GRCh37.p13	First Pass	NC_000005.9	Chr5	13,416,592	13,422,853

Showing 8 of 12

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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