nsv3383877

Organism: Homo sapiens

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

Variant Calls:12
Validation:Not tested
Clinical Assertions: No
Region Size:6,075

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

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Select assembly:

Overlapping variant regions from other studies: 211 SVs from 58 studies. See in: genome view

Submitted genomic78,347,968-78,354,042

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3383877	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	78,347,968	78,354,042
nsv3383877	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv14773178	line1 deletion	SAMN02744161	Sequencing	de novo and local sequence assembly	20,941
nssv14774130	line1 deletion	SAMN05181962	Sequencing	de novo and local sequence assembly	23,563
nssv14774403	line1 deletion	SAMN09643900	Sequencing	de novo and local sequence assembly	26,631
nssv14774654	line1 deletion	SAMN04229552	Sequencing	de novo and local sequence assembly	24,632
nssv14778116	line1 deletion	SAMN05603745	Sequencing	de novo and local sequence assembly	27,447
nssv14779031	line1 deletion	SAMN06885952	Sequencing	de novo and local sequence assembly	28,070
nssv14779533	line1 deletion	SAMN05603729	Sequencing	de novo and local sequence assembly	24,108
nssv14779884	line1 deletion	SAMN04251426	Sequencing	de novo and local sequence assembly	22,074
nssv14780418	line1 deletion	SAMN03838746	Sequencing	de novo and local sequence assembly	26,336
nssv14780582	line1 deletion	SAMN04229548	Sequencing	de novo and local sequence assembly	23,009
nssv14783711	line1 deletion	SAMN09690649	Sequencing	de novo and local sequence assembly	21,495
nssv14786769	line1 deletion	SAMN03255769	Sequencing	de novo and local sequence assembly	21,134

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14773178	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14774130	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14774403	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14774654	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14778116	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14779031	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14779533	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14779884	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14780418	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14780582	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14783711	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14786769	Submitted genomic		NC_000004.12:g.783 47968_78354042del	GRCh38 (hg38)		NC_000004.12	Chr4	78,347,968	78,354,042
nssv14773178	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14774130	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14774403	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14774654	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14778116	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14779031	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14779533	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14779884	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14780418	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14780582	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14783711	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196
nssv14786769	Remapped	Perfect	NC_000004.11:g.792 69122_79275196delN C_000004.11:g.7926 9122_79275196del	GRCh37.p13	First Pass	NC_000004.11	Chr4	79,269,122	79,275,196

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dbVar

Database of genomic structural variation

nsv3383877

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Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

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